Details for: HMBS
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: basophilic erythroblast (CL0000549)
Fold Change: 64.7334
Cell Significance Index: 29.4800 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 40.5293
Cell Significance Index: -10.2800 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 28.9472
Cell Significance Index: -11.7600 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 20.9829
Cell Significance Index: -14.0800 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 12.3698
Cell Significance Index: -11.8100 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 4.6475
Cell Significance Index: -12.4500 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 3.4592
Cell Significance Index: -13.6500 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 1.6459
Cell Significance Index: 113.8200 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 1.3296
Cell Significance Index: -2.9100 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.0541
Cell Significance Index: 114.6600 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1.0451
Cell Significance Index: 943.6800 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.9425
Cell Significance Index: 25.2600 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.8240
Cell Significance Index: 134.0200 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.7312
Cell Significance Index: 85.2100 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.6824
Cell Significance Index: 30.9300 - Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.6303
Cell Significance Index: 7.1400 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.5657
Cell Significance Index: 6.1500 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.4818
Cell Significance Index: 91.6800 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.4794
Cell Significance Index: 30.2200 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.4720
Cell Significance Index: 6.4400 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.3935
Cell Significance Index: 20.4400 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.3844
Cell Significance Index: 5.7600 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3773
Cell Significance Index: 10.8700 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.3401
Cell Significance Index: 185.7200 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.3159
Cell Significance Index: 22.3400 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.3009
Cell Significance Index: 8.4100 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.3005
Cell Significance Index: 6.5100 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.2964
Cell Significance Index: 13.8200 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.2797
Cell Significance Index: 32.9900 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.2663
Cell Significance Index: 3.1800 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.2580
Cell Significance Index: 6.8900 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.2258
Cell Significance Index: 99.8200 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.2116
Cell Significance Index: 4.4300 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.2068
Cell Significance Index: 4.2900 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.1983
Cell Significance Index: 6.3500 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.1871
Cell Significance Index: 37.1300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.1714
Cell Significance Index: 5.9600 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1667
Cell Significance Index: 30.0500 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1529
Cell Significance Index: 18.8100 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.1474
Cell Significance Index: 3.1400 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.1103
Cell Significance Index: 3.2400 - Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: 0.1099
Cell Significance Index: 1.5300 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.1068
Cell Significance Index: 13.8000 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.0871
Cell Significance Index: 2.3700 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.0828
Cell Significance Index: 5.3400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.0818
Cell Significance Index: 8.0900 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0702
Cell Significance Index: 14.0900 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.0613
Cell Significance Index: 0.6400 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.0611
Cell Significance Index: 42.2500 - Cell Name: peg cell (CL4033014)
Fold Change: 0.0519
Cell Significance Index: 1.2000 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.0505
Cell Significance Index: 3.7600 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0330
Cell Significance Index: 4.5300 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.0311
Cell Significance Index: 1.4600 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0299
Cell Significance Index: 0.5000 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.0297
Cell Significance Index: 3.8100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 0.0242
Cell Significance Index: 18.3400 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0213
Cell Significance Index: 7.6300 - Cell Name: kidney cell (CL1000497)
Fold Change: 0.0200
Cell Significance Index: 0.1600 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0028
Cell Significance Index: 0.4700 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0041
Cell Significance Index: -7.6900 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0055
Cell Significance Index: -4.0200 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0069
Cell Significance Index: -12.6800 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0078
Cell Significance Index: -11.9600 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0109
Cell Significance Index: -14.8400 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0146
Cell Significance Index: -9.2800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0162
Cell Significance Index: -11.9700 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0203
Cell Significance Index: -2.0700 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0232
Cell Significance Index: -10.5500 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0232
Cell Significance Index: -13.1000 - Cell Name: hepatoblast (CL0005026)
Fold Change: -0.0232
Cell Significance Index: -0.3900 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0273
Cell Significance Index: -17.0400 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.0442
Cell Significance Index: -1.1300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0448
Cell Significance Index: -3.4400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0480
Cell Significance Index: -13.8000 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0512
Cell Significance Index: -2.6900 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: -0.0570
Cell Significance Index: -0.5300 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0663
Cell Significance Index: -7.6000 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0706
Cell Significance Index: -2.4800 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0722
Cell Significance Index: -15.2100 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0755
Cell Significance Index: -10.9800 - Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.0940
Cell Significance Index: -0.7900 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.1100
Cell Significance Index: -1.2500 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.1175
Cell Significance Index: -3.0900 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1253
Cell Significance Index: -7.0300 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1277
Cell Significance Index: -13.3000 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.1350
Cell Significance Index: -7.0300 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1400
Cell Significance Index: -11.0900 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.1432
Cell Significance Index: -3.8300 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1519
Cell Significance Index: -9.3100 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.1528
Cell Significance Index: -9.3900 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1728
Cell Significance Index: -11.6200 - Cell Name: reticulocyte (CL0000558)
Fold Change: -0.1806
Cell Significance Index: -0.9500 - Cell Name: proerythroblast (CL0000547)
Fold Change: -0.1821
Cell Significance Index: -2.6100 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.2329
Cell Significance Index: -6.8600 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.2468
Cell Significance Index: -6.1700 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.2516
Cell Significance Index: -11.1300 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.2521
Cell Significance Index: -6.4800 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.2638
Cell Significance Index: -4.5200 - Cell Name: germ cell (CL0000586)
Fold Change: -0.2649
Cell Significance Index: -2.0000 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.2937
Cell Significance Index: -10.2900
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.
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.
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
Genular Protein ID: 3121600223
Symbol: HEM3_HUMAN
Name: Hydroxymethylbilane synthase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2875434
Title: Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.
PubMed ID: 2875434
PubMed ID: 3816774
Title: Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.
PubMed ID: 3816774
PubMed ID: 7916736
Title: Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.
PubMed ID: 7916736
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16554811
Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.
PubMed ID: 16554811
DOI: 10.1038/nature04632
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 3422427
Title: Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.
PubMed ID: 3422427
DOI: 10.1073/pnas.85.1.6
PubMed ID: 2609111
Title: Porphobilinogen deaminase in human erythrocytes: purification of two forms with apparent molecular weights of 40 kDa and 42 kDa.
PubMed ID: 2609111
PubMed ID: 18004775
Title: Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
PubMed ID: 18004775
DOI: 10.1002/prot.21755
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 19207107
Title: Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.
PubMed ID: 19207107
DOI: 10.1042/bj20082077
PubMed ID: 18936296
Title: Structural insight into acute intermittent porphyria.
PubMed ID: 18936296
DOI: 10.1096/fj.08-115469
PubMed ID: 2243128
Title: Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
PubMed ID: 2243128
DOI: 10.1172/jci114869
PubMed ID: 1714233
Title: Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
PubMed ID: 1714233
PubMed ID: 1496994
Title: High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
PubMed ID: 1496994
PubMed ID: 1577472
Title: Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
PubMed ID: 1577472
DOI: 10.1007/bf00207051
PubMed ID: 1427766
Title: Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
PubMed ID: 1427766
DOI: 10.1007/bf00210738
PubMed ID: 1301948
Title: CRIM-positive mutations of acute intermittent porphyria in Finland.
PubMed ID: 1301948
PubMed ID: 8262523
Title: Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
PubMed ID: 8262523
DOI: 10.1007/bf00420949
PubMed ID: 8401516
Title: Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
PubMed ID: 8401516
DOI: 10.1093/hmg/2.8.1315
PubMed ID: 8268934
Title: Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
PubMed ID: 8268934
PubMed ID: 8270254
Title: Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
PubMed ID: 8270254
DOI: 10.1007/bf00218912
PubMed ID: 8270256
Title: Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
PubMed ID: 8270256
DOI: 10.1007/bf00218914
PubMed ID: 8081367
Title: Identification of five novel mutations in the porphobilinogen deaminase gene.
PubMed ID: 8081367
DOI: 10.1093/hmg/3.5.809
PubMed ID: 7866402
Title: Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
PubMed ID: 7866402
PubMed ID: 7962538
Title: Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme.
PubMed ID: 7962538
DOI: 10.1172/jci117543
PubMed ID: 7757070
Title: Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
PubMed ID: 7757070
DOI: 10.1093/hmg/4.2.215
PubMed ID: 8825929
Title: Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
PubMed ID: 8825929
PubMed ID: 9199558
Title: Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
PubMed ID: 9199558
DOI: 10.1086/515455
PubMed ID: 9225970
Title: Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
PubMed ID: 9225970
PubMed ID: 9654202
Title: Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
PubMed ID: 9654202
PubMed ID: 9463797
Title: Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
PubMed ID: 9463797
DOI: 10.1159/000022777
PubMed ID: 10494093
Title: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
PubMed ID: 10494093
DOI: 10.1002/(sici)1096-8628(19991008)86:4<366::aid-ajmg11>3.3.co;2-r
PubMed ID: 10453740
Title: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
PubMed ID: 10453740
PubMed ID: 10502788
Title: Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing acceptor site mutation (IVS8-1G>T).
PubMed ID: 10502788
DOI: 10.1002/(sici)1098-1004(199910)14:4<355::aid-humu19>3.0.co;2-t
PubMed ID: 10657149
Title: New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
PubMed ID: 10657149
PubMed ID: 10602775
Title: Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
PubMed ID: 10602775
DOI: 10.1007/bf03401985
PubMed ID: 11399210
Title: Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
PubMed ID: 11399210
PubMed ID: 11030413
Title: Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
PubMed ID: 11030413
PubMed ID: 10782018
Title: Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
PubMed ID: 10782018
DOI: 10.1159/000022924
PubMed ID: 11013452
Title: Identification and characterization of two novel mutations that produce acute intermittent porphyria: a 3-base deletion (841-843delGGA) and a missense mutation (T35M).
PubMed ID: 11013452
DOI: 10.1002/1098-1004(200010)16:4<373::aid-humu14>3.0.co;2-a
PubMed ID: 12406973
Title: Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
PubMed ID: 12406973
PubMed ID: 12372055
Title: Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
PubMed ID: 12372055
PubMed ID: 11857754
Title: Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
PubMed ID: 11857754
DOI: 10.1002/humu.9020
PubMed ID: 12773194
Title: Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.
PubMed ID: 12773194
DOI: 10.1042/bst0310731
PubMed ID: 14757946
Title: Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
PubMed ID: 14757946
DOI: 10.1155/2003/384971
PubMed ID: 14669009
Title: Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
PubMed ID: 14669009
PubMed ID: 14970743
Title: Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
PubMed ID: 14970743
PubMed ID: 15669678
Title: Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
PubMed ID: 15669678
PubMed ID: 16211556
Title: Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
PubMed ID: 16211556
DOI: 10.1002/humu.9381
PubMed ID: 18406650
Title: Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
PubMed ID: 18406650
PubMed ID: 19138865
Title: Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
PubMed ID: 19138865
PubMed ID: 19292878
Title: Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
PubMed ID: 19292878
PubMed ID: 23815679
Title: Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
PubMed ID: 23815679
DOI: 10.1042/bsr20130045
PubMed ID: 25703257
Title: Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
PubMed ID: 25703257
DOI: 10.1111/ahg.12102
PubMed ID: 25870942
Title: A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
PubMed ID: 25870942
PubMed ID: 27558376
Title: Acute intermittent porphyria-related leukoencephalopathy.
PubMed ID: 27558376
PubMed ID: 29360981
Title: From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
PubMed ID: 29360981
DOI: 10.1093/hmg/ddy030
PubMed ID: 34089223
Title: Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
PubMed ID: 34089223
DOI: 10.1002/ajmg.a.62377
Sequence Information:
- Length: 361
- Mass: 39330
- Checksum: 8F2F6F4150F1AD7E
- Sequence:
MSGNGNAAAT AEENSPKMRV IRVGTRKSQL ARIQTDSVVA TLKASYPGLQ FEIIAMSTTG DKILDTALSK IGEKSLFTKE LEHALEKNEV DLVVHSLKDL PTVLPPGFTI GAICKRENPH DAVVFHPKFV GKTLETLPEK SVVGTSSLRR AAQLQRKFPH LEFRSIRGNL NTRLRKLDEQ QEFSAIILAT AGLQRMGWHN RVGQILHPEE CMYAVGQGAL GVEVRAKDQD ILDLVGVLHD PETLLRCIAE RAFLRHLEGG CSVPVAVHTA MKDGQLYLTG GVWSLDGSDS IQETMQATIH VPAQHEDGPE DDPQLVGITA RNIPRGPQLA AQNLGISLAN LLLSKGAKNI LDVARQLNDA H
Genular Protein ID: 1630448330
Symbol: A0A8I5KXV4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11237011
Title: Initial sequencing and analysis of the human genome.
PubMed ID: 11237011
DOI: 10.1038/35057062
PubMed ID: 15496913
Title: Finishing the euchromatic sequence of the human genome.
PubMed ID: 15496913
DOI: 10.1038/nature03001
PubMed ID: 16554811
Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.
PubMed ID: 16554811
DOI: 10.1038/nature04632
Sequence Information:
- Length: 306
- Mass: 33499
- Checksum: 3CF234BA58375C53
- Sequence:
MSTTGDKILD TALSKIGEKS LFTKELEHAL EKNEVDLVVH SLKDLPTVLP PGFTIGAICK RENPHDAVVF HPKFVGKTLE TLPEKSVVGT SSLRRAAQLQ RKFPHLEFRS IRGNLNTRLR KLDEQQEFSA IILATAGLQR MGWHNRVGQI LHPEECMYAV GQGALGVEVR AKDQDILDLV GVLHDPETLL RCIAERAFLR HLEGGCSVPV AVHTAMKDGQ LYLTGGVWSL DGSDSIQETM QATIHVPAQH EDGPEDDPQL VGITARNIPR GPQLAAQNLG ISLANLLLSK GAKNILDVAR QLNDAH
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.