Details for: ABCC8

Gene ID: 6833

Symbol: ABCC8

Ensembl ID: ENSG00000006071

Description: ATP binding cassette subfamily C member 8

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.8017
    Cell Significance Index: 233.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.6497
    Cell Significance Index: 84.8700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.5497
    Cell Significance Index: 55.8300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7654
    Cell Significance Index: 354.1300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.6670
    Cell Significance Index: 11.4300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6644
    Cell Significance Index: 238.3000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.6234
    Cell Significance Index: 17.7900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6040
    Cell Significance Index: 40.6200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5923
    Cell Significance Index: 22.4300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5703
    Cell Significance Index: 514.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5679
    Cell Significance Index: 56.1800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5403
    Cell Significance Index: 23.9000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.5307
    Cell Significance Index: 7.0800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4137
    Cell Significance Index: 286.1400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3942
    Cell Significance Index: 54.1300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3216
    Cell Significance Index: 52.3100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.3075
    Cell Significance Index: 4.3700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2412
    Cell Significance Index: 26.2400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1384
    Cell Significance Index: 2.2200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1271
    Cell Significance Index: 7.8100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1028
    Cell Significance Index: 11.7400
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.0868
    Cell Significance Index: 0.9000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0757
    Cell Significance Index: 5.2400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0747
    Cell Significance Index: 14.2200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.0714
    Cell Significance Index: 1.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0592
    Cell Significance Index: 4.5500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0338
    Cell Significance Index: 2.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0087
    Cell Significance Index: 6.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0080
    Cell Significance Index: 0.2300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0076
    Cell Significance Index: 10.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0068
    Cell Significance Index: 0.2400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0047
    Cell Significance Index: 0.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0029
    Cell Significance Index: 0.1300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0021
    Cell Significance Index: 0.4400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0030
    Cell Significance Index: -5.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0059
    Cell Significance Index: -9.1000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0063
    Cell Significance Index: -0.1500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0068
    Cell Significance Index: -12.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0074
    Cell Significance Index: -4.5900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0080
    Cell Significance Index: -4.5200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0144
    Cell Significance Index: -2.4700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0263
    Cell Significance Index: -16.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0263
    Cell Significance Index: -3.3800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0265
    Cell Significance Index: -20.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0275
    Cell Significance Index: -20.1500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0289
    Cell Significance Index: -1.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0333
    Cell Significance Index: -18.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0355
    Cell Significance Index: -0.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0360
    Cell Significance Index: -16.3600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0421
    Cell Significance Index: -6.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0536
    Cell Significance Index: -15.4100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0565
    Cell Significance Index: -1.5800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0573
    Cell Significance Index: -1.1500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0575
    Cell Significance Index: -1.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0666
    Cell Significance Index: -13.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0762
    Cell Significance Index: -13.7300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0763
    Cell Significance Index: -1.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0831
    Cell Significance Index: -1.1900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1085
    Cell Significance Index: -0.7400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1174
    Cell Significance Index: -8.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1222
    Cell Significance Index: -15.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1281
    Cell Significance Index: -15.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1416
    Cell Significance Index: -16.2200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1417
    Cell Significance Index: -4.6400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1457
    Cell Significance Index: -4.6400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1503
    Cell Significance Index: -19.4200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1503
    Cell Significance Index: -7.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1566
    Cell Significance Index: -18.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1567
    Cell Significance Index: -3.2500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1568
    Cell Significance Index: -3.1000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1579
    Cell Significance Index: -1.7200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1592
    Cell Significance Index: -3.4400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1629
    Cell Significance Index: -1.9800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1686
    Cell Significance Index: -2.5400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1688
    Cell Significance Index: -9.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1734
    Cell Significance Index: -18.0500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2029
    Cell Significance Index: -20.7300
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2239
    Cell Significance Index: -2.1300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2296
    Cell Significance Index: -6.2500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.2459
    Cell Significance Index: -1.9000
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.2479
    Cell Significance Index: -3.2200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2589
    Cell Significance Index: -3.0200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2633
    Cell Significance Index: -12.2800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2655
    Cell Significance Index: -9.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2822
    Cell Significance Index: -14.6600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2904
    Cell Significance Index: -7.2600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2931
    Cell Significance Index: -7.3100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3254
    Cell Significance Index: -20.9900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3273
    Cell Significance Index: -17.0500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3302
    Cell Significance Index: -3.1300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3368
    Cell Significance Index: -4.2500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.3924
    Cell Significance Index: -5.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3983
    Cell Significance Index: -18.7200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.4038
    Cell Significance Index: -10.0700
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.4137
    Cell Significance Index: -3.7400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.4216
    Cell Significance Index: -7.2900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4394
    Cell Significance Index: -9.1700
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.4896
    Cell Significance Index: -3.8400
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.5000
    Cell Significance Index: -6.2200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5279
    Cell Significance Index: -12.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The ABCC8 gene is a member of the ATP-binding cassette (ABC) transporter superfamily, which is characterized by its ability to transport a wide range of substrates across cellular membranes. The ABCC8 protein is a heterodimeric complex, consisting of the ABCC8 subunit and the SUR1 subunit, which is encoded by the ABCC9 gene. This complex is embedded in the plasma membrane of pancreatic beta cells and plays a crucial role in regulating insulin secretion in response to glucose stimuli. **Pathways and Functions:** The ABCC8 gene is involved in several key pathways that regulate glucose homeostasis and insulin secretion: 1. **Inward Rectifying Potassium Channels (Kir Channels):** The ABCC8 protein forms a complex with the Kir6.2 subunit, which is essential for the regulation of insulin secretion in response to glucose stimuli. These channels are sensitive to ATP and are activated by glucose, leading to an influx of potassium ions into the pancreatic beta cell. 2. **Sulfonylurea Receptor Activity:** The ABCC8 protein acts as a sulfonylurea receptor, which is activated by glucose and leads to the closure of ATP-sensitive potassium channels. This closure results in an increase in intracellular calcium levels, which in turn stimulates insulin secretion. 3. **Regulation of Insulin Secretion:** The ABCC8 protein plays a critical role in regulating insulin secretion in response to glucose stimuli. Defects in the ABCC8 gene have been linked to impaired insulin secretion, leading to hyperglycemia and other metabolic disorders. **Clinical Significance:** Dysregulation of the ABCC8 gene has been implicated in various clinical conditions, including: 1. **Congenital Hyperinsulinism:** Mutations in the ABCC8 gene have been identified as a cause of congenital hyperinsulinism, a condition characterized by excessive insulin secretion and hypoglycemia. 2. **Hyperglycemia:** Defects in the ABCC8 gene have been linked to impaired glucose homeostasis and hyperglycemia, highlighting the importance of this gene in regulating insulin secretion. 3. **Diabetes:** The ABCC8 gene has been identified as a potential target for the development of novel therapeutic strategies for diabetes, including the use of sulfonylurea receptor agonists. In conclusion, the ABCC8 gene plays a critical role in regulating insulin secretion and glucose homeostasis. Its dysregulation has been linked to various clinical conditions, including congenital hyperinsulinism and hyperglycemia. Further research is needed to fully understand the mechanisms by which the ABCC8 gene regulates insulin secretion and to develop novel therapeutic strategies for the treatment of diabetes and other metabolic disorders.

Genular Protein ID: 304896656

Symbol: ABCC8_HUMAN

Name: ATP-binding cassette sub-family C member 8

UniProtKB Accession Codes:

Q09428 A6NMX8 E3UYX6 O75948 Q16583

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 13 DrugCentral 1 ELM 1 EMBL 100 EMDB 8 Ensembl 4 ExpressionAtlas 1 GO 43 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 10 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 21671119

Title: An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action.

PubMed ID: 21671119

DOI: 10.1007/s00018-011-0739-x

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 7716548

Title: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

PubMed ID: 7716548

DOI: 10.1126/science.7716548

PubMed ID: 10506167

Title: Membrane topology of the amino-terminal region of the sulfonylurea receptor.

PubMed ID: 10506167

DOI: 10.1074/jbc.274.41.29122

PubMed ID: 10338089

Title: Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

PubMed ID: 10338089

DOI: 10.1002/(sici)1098-1004(1999)13:5<351::aid-humu3>3.0.co;2-r

PubMed ID: 8751851

Title: Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

PubMed ID: 8751851

PubMed ID: 8635661

Title: Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians.

PubMed ID: 8635661

DOI: 10.2337/diab.45.6.825

PubMed ID: 8923011

Title: Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

PubMed ID: 8923011

DOI: 10.1093/hmg/5.11.1813

PubMed ID: 8650576

Title: Adenosine diphosphate as an intracellular regulator of insulin secretion.

PubMed ID: 8650576

DOI: 10.1126/science.272.5269.1785

PubMed ID: 9519757

Title: Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM.

PubMed ID: 9519757

DOI: 10.2337/diabetes.47.3.476

PubMed ID: 9568693

Title: Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene.

PubMed ID: 9568693

DOI: 10.2337/diabetes.47.4.598

PubMed ID: 9648840

Title: Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

PubMed ID: 9648840

DOI: 10.2337/diabetes.47.7.1145

PubMed ID: 9618169

Title: Genetic heterogeneity in familial hyperinsulinism.

PubMed ID: 9618169

DOI: 10.1093/hmg/7.7.1119

PubMed ID: 9769320

Title: Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

PubMed ID: 9769320

DOI: 10.1172/jci4495

PubMed ID: 10334322

Title: A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

PubMed ID: 10334322

DOI: 10.2337/diabetes.48.2.408

PubMed ID: 10204114

Title: Molecular biology of adenosine triphosphate-sensitive potassium channels.

PubMed ID: 10204114

DOI: 10.1210/edrv.20.2.0361

PubMed ID: 10447255

Title: Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

PubMed ID: 10447255

DOI: 10.1002/(sici)1098-1004(1999)14:1<23::aid-humu3>3.0.co;2-#

PubMed ID: 10202168

Title: Clinical features of 52 neonates with hyperinsulinism.

PubMed ID: 10202168

DOI: 10.1056/nejm199904153401505

PubMed ID: 10615958

Title: Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

PubMed ID: 10615958

DOI: 10.2337/diabetes.49.1.114

PubMed ID: 11018078

Title: Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

PubMed ID: 11018078

DOI: 10.1172/jci9804

PubMed ID: 11226335

Title: Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.

PubMed ID: 11226335

DOI: 10.1073/pnas.051499698

PubMed ID: 11867634

Title: Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.

PubMed ID: 11867634

DOI: 10.1074/jbc.m200363200

PubMed ID: 12364426

Title: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

PubMed ID: 12364426

DOI: 10.1210/jc.2002-020378

PubMed ID: 12941782

Title: Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

PubMed ID: 12941782

DOI: 10.2337/diabetes.52.9.2403

PubMed ID: 15356046

Title: Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.

PubMed ID: 15356046

DOI: 10.1210/jc.2004-0441

PubMed ID: 15579781

Title: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PubMed ID: 15579781

DOI: 10.1210/jc.2004-1233

PubMed ID: 15807877

Title: Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

PubMed ID: 15807877

DOI: 10.1111/j.1365-2265.2005.02242.x

PubMed ID: 15562009

Title: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PubMed ID: 15562009

DOI: 10.1210/jc.2004-1604

PubMed ID: 16613899

Title: A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

PubMed ID: 16613899

DOI: 10.1093/hmg/ddl101

PubMed ID: 16429405

Title: Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

PubMed ID: 16429405

DOI: 10.1002/humu.9401

PubMed ID: 16357843

Title: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

PubMed ID: 16357843

DOI: 10.1038/modpathol.3800497

PubMed ID: 16885549

Title: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

PubMed ID: 16885549

DOI: 10.1056/nejmoa055068

PubMed ID: 17668386

Title: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

PubMed ID: 17668386

DOI: 10.1086/519174

PubMed ID: 17213273

Title: Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

PubMed ID: 17213273

DOI: 10.1210/jc.2006-2490

PubMed ID: 24814349

Title: Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

PubMed ID: 24814349

DOI: 10.1111/cge.12428

PubMed ID: 25720052

Title: Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.

PubMed ID: 25720052

DOI: 10.1515/jpem-2014-0265

Sequence Information:

  • Length: 1581
  • Mass: 176992
  • Checksum: 09CF2EC97899D1CE
  • Sequence:
    • MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI 
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS 
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG 
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA 
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV 
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV 
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL 
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK 
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT 
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST 
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT 
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS 
SLLLAALGEM QKVSGAVFWS SLPDSEIGED PSPERETATD LDIRKRGPVA YASQKPWLLN 
ATVEENIIFE SPFNKQRYKM VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA 
RALYQHANVV FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII 
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE PPQGLSRAMS 
SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC AKYLSSAGIL LLSLLVFSQL 
LKHMVLVAID YWLAKWTDSA LTLTPAARNC SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV 
TSVTVEWTGL KVAKRLHRSL LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE 
CLSRSTLLCV SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL 
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR MEYIGACVVL 
IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN LADMELQLGA VKRIHGLLKT 
EAESYEGLLA PSLIPKNWPD QGKIQIQNLS VRYDSSLKPV LKHVNALIAP GQKIGICGRT 
GSGKSSFSLA FFRMVDTFEG HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD 
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS 
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD 
KPEKLLSRKD SVFASFVRAD K

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.