Details for: MMUT

Gene ID: 4594

Symbol: MMUT

Ensembl ID: ENSG00000146085

Description: methylmalonyl-CoA mutase

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 136.1662
    Cell Significance Index: -21.1800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 87.6033
    Cell Significance Index: -22.2200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 53.7149
    Cell Significance Index: -25.3600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 50.9160
    Cell Significance Index: -20.6900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 21.7807
    Cell Significance Index: -20.8000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.9220
    Cell Significance Index: -23.3300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.0636
    Cell Significance Index: -24.2800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.0440
    Cell Significance Index: -23.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.3623
    Cell Significance Index: -16.4700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.2944
    Cell Significance Index: -7.2100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.2607
    Cell Significance Index: 146.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1463
    Cell Significance Index: 15.6400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.0718
    Cell Significance Index: 15.8200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7082
    Cell Significance Index: 36.7900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6979
    Cell Significance Index: 15.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6550
    Cell Significance Index: 129.9800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6295
    Cell Significance Index: 126.2800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5416
    Cell Significance Index: 58.9200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4420
    Cell Significance Index: 79.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3915
    Cell Significance Index: 11.2800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3904
    Cell Significance Index: 48.0000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3856
    Cell Significance Index: 52.9500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3543
    Cell Significance Index: 22.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3322
    Cell Significance Index: 119.1400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3297
    Cell Significance Index: 8.9800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3084
    Cell Significance Index: 14.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3023
    Cell Significance Index: 57.5200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.3000
    Cell Significance Index: 2.5200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2854
    Cell Significance Index: 12.9400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2669
    Cell Significance Index: 18.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2251
    Cell Significance Index: 99.5400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1924
    Cell Significance Index: 173.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1821
    Cell Significance Index: 23.3400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1753
    Cell Significance Index: 121.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1662
    Cell Significance Index: 90.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1293
    Cell Significance Index: 4.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1239
    Cell Significance Index: 6.9500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1216
    Cell Significance Index: 8.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1194
    Cell Significance Index: 2.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1188
    Cell Significance Index: 6.2400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1124
    Cell Significance Index: 6.9100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1028
    Cell Significance Index: 5.2000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0991
    Cell Significance Index: 7.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0672
    Cell Significance Index: 10.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0591
    Cell Significance Index: 111.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0496
    Cell Significance Index: 31.5000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0487
    Cell Significance Index: 1.7100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0478
    Cell Significance Index: 2.4900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0444
    Cell Significance Index: 32.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0330
    Cell Significance Index: 0.8700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0140
    Cell Significance Index: 0.3900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0069
    Cell Significance Index: 1.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0060
    Cell Significance Index: 9.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0002
    Cell Significance Index: 0.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0018
    Cell Significance Index: -0.8200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0027
    Cell Significance Index: -0.3200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0075
    Cell Significance Index: -10.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0120
    Cell Significance Index: -0.3200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0144
    Cell Significance Index: -10.8700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0153
    Cell Significance Index: -11.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0190
    Cell Significance Index: -2.4500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0202
    Cell Significance Index: -2.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0242
    Cell Significance Index: -3.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0294
    Cell Significance Index: -16.6000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0359
    Cell Significance Index: -0.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0478
    Cell Significance Index: -3.5600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0479
    Cell Significance Index: -29.9200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0484
    Cell Significance Index: -4.9400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0518
    Cell Significance Index: -5.9300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0596
    Cell Significance Index: -2.0700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0677
    Cell Significance Index: -19.4900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0860
    Cell Significance Index: -1.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0890
    Cell Significance Index: -1.4900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1042
    Cell Significance Index: -4.9000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1065
    Cell Significance Index: -7.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1145
    Cell Significance Index: -24.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1148
    Cell Significance Index: -5.0800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1365
    Cell Significance Index: -2.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1481
    Cell Significance Index: -5.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1866
    Cell Significance Index: -19.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1930
    Cell Significance Index: -15.2900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1942
    Cell Significance Index: -12.5300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2206
    Cell Significance Index: -2.6300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2262
    Cell Significance Index: -3.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2367
    Cell Significance Index: -4.6200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2485
    Cell Significance Index: -5.9600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2710
    Cell Significance Index: -4.3000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2856
    Cell Significance Index: -17.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2884
    Cell Significance Index: -4.9400
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.3056
    Cell Significance Index: -3.1900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3326
    Cell Significance Index: -9.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3623
    Cell Significance Index: -9.2600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3774
    Cell Significance Index: -9.7000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3876
    Cell Significance Index: -9.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4040
    Cell Significance Index: -11.9000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4220
    Cell Significance Index: -13.4400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4224
    Cell Significance Index: -3.8900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4351
    Cell Significance Index: -9.2400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4391
    Cell Significance Index: -12.5300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4499
    Cell Significance Index: -5.5800

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:** 1. **Gene Location and Expression:** MMUT is located on chromosome 1q21.1 and is highly expressed in various tissues, including the kidney, brain, and liver. 2. **Protein Structure:** MMUT is a homodimeric enzyme composed of two identical subunits, each consisting of a coenzyme A binding domain and a methylmalonyl-CoA binding domain. 3. **Function:** MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, a critical step in the metabolism of odd-chain fatty acids and branched-chain amino acids. 4. **Cofactor:** MMUT requires adenosylcobalamin (AdoCbl) as a cofactor, which is a derivative of vitamin B12. **Pathways and Functions:** 1. **Cobalamin (cbl) Metabolism:** MMUT is essential for the metabolism of cobalamin, which is necessary for various cellular processes, including DNA synthesis, fatty acid synthesis, and neurotransmitter synthesis. 2. **Fatty Acid Metabolism:** MMUT plays a critical role in the catabolism of odd-chain fatty acids, which are essential for energy production and membrane synthesis. 3. **Metabolism of Branched-Chain Amino Acids:** MMUT is involved in the metabolism of branched-chain amino acids, which are essential for protein synthesis and energy production. 4. **Mitochondrial Fatty Acid Beta-Oxidation:** MMUT is necessary for the mitochondrial beta-oxidation of fatty acids, which is essential for energy production. **Clinical Significance:** 1. **Neurological Disorders:** Defects in MMUT have been associated with neurological disorders, including ataxia, neuropathy, and cognitive impairment. 2. **Metabolic Disturbances:** MMUT deficiency has been linked to metabolic disturbances, including hypermethylmalonic acidemia and propionic acidemia. 3. **Congenital Anomalies:** MMUT deficiency has been associated with congenital anomalies, including heart defects and cleft palate. 4. **Diagnostic Challenges:** MMUT deficiency can be challenging to diagnose, as it often presents with nonspecific symptoms and may be missed in the absence of specific biochemical tests. In conclusion, MMUT is a critical enzyme involved in cobalamin metabolism and fatty acid catabolism. Defects in MMUT have been associated with various diseases, including neurological disorders, metabolic disturbances, and congenital anomalies. Further research is necessary to fully understand the clinical significance of MMUT and to develop effective diagnostic and therapeutic strategies for MMUT deficiency.

Genular Protein ID: 3750205493

Symbol: MUTA_HUMAN

Name: Methylmalonyl-CoA isomerase

UniProtKB Accession Codes:

P22033 A8K953 Q5SYZ3 Q96B11 Q9UD64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEBI 13 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 16 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2453061

Title: Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.

PubMed ID: 2453061

DOI: 10.1073/pnas.85.10.3518

PubMed ID: 2567699

Title: Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.

PubMed ID: 2567699

DOI: 10.1016/0888-7543(89)90300-5

PubMed ID: 1980486

Title: Structure of the human methylmalonyl-CoA mutase (MUT) locus.

PubMed ID: 1980486

DOI: 10.1016/0888-7543(90)90259-w

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 24458

Title: Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats.

PubMed ID: 24458

DOI: 10.1111/j.1365-2141.1975.tb00885.x

PubMed ID: 1978672

Title: Primary structure and activity of mouse methylmalonyl-CoA mutase.

PubMed ID: 1978672

DOI: 10.1042/bj2710449

PubMed ID: 21138732

Title: Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.

PubMed ID: 21138732

DOI: 10.1016/j.bbrc.2010.11.141

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28943303

Title: Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.

PubMed ID: 28943303

DOI: 10.1016/j.biochi.2017.09.012

PubMed ID: 29056341

Title: The human knockout gene CLYBL connects itaconate to vitamin B12.

PubMed ID: 29056341

DOI: 10.1016/j.cell.2017.09.051

PubMed ID: 20876572

Title: Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

PubMed ID: 20876572

DOI: 10.1074/jbc.m110.177717

PubMed ID: 1977311

Title: Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

PubMed ID: 1977311

PubMed ID: 1670635

Title: Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

PubMed ID: 1670635

DOI: 10.1172/jci114972

PubMed ID: 1351030

Title: Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

PubMed ID: 1351030

DOI: 10.1007/bf00220536

PubMed ID: 1346616

Title: Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

PubMed ID: 1346616

DOI: 10.1172/jci115597

PubMed ID: 7912889

Title: Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia.

PubMed ID: 7912889

PubMed ID: 7909321

Title: Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

PubMed ID: 7909321

DOI: 10.1172/jci117166

PubMed ID: 9285782

Title: Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.

PubMed ID: 9285782

DOI: 10.1093/hmg/6.9.1457

PubMed ID: 8990001

Title: Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

PubMed ID: 8990001

DOI: 10.1002/(sici)1098-1004(1997)9:1<1::aid-humu1>3.0.co;2-e

PubMed ID: 9452100

Title: A common mutation among blacks with mut- methylmalonic aciduria.

PubMed ID: 9452100

DOI: 10.1002/humu.1380110179

PubMed ID: 9554742

Title: Seven novel mutations in mut methylmalonic aciduria.

PubMed ID: 9554742

DOI: 10.1002/(sici)1098-1004(1998)11:4<270::aid-humu3>3.0.co;2-t

PubMed ID: 10923046

Title: mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.

PubMed ID: 10923046

DOI: 10.1002/1098-1004(200008)16:2<179::aid-humu17>3.0.co;2-r

PubMed ID: 11350191

Title: Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

PubMed ID: 11350191

DOI: 10.1006/mgme.2001.3166

PubMed ID: 15643616

Title: Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

PubMed ID: 15643616

DOI: 10.1002/humu.20128

PubMed ID: 15781192

Title: Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

PubMed ID: 15781192

DOI: 10.1016/j.ymgme.2004.11.011

PubMed ID: 16281286

Title: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

PubMed ID: 16281286

DOI: 10.1002/humu.20258

PubMed ID: 17113806

Title: Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

PubMed ID: 17113806

DOI: 10.1016/j.ymgme.2006.10.002

PubMed ID: 17957493

Title: Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

PubMed ID: 17957493

DOI: 10.1007/s10545-007-0667-y

PubMed ID: 19588269

Title: Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.

PubMed ID: 19588269

DOI: 10.1007/s10545-009-1141-9

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22727635

Title: Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 no vel mutations.

PubMed ID: 22727635

DOI: 10.1016/j.ymgme.2012.05.014

PubMed ID: 25125334

Title: Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

PubMed ID: 25125334

DOI: 10.1002/humu.22633

PubMed ID: 27167370

Title: Molecular genetic characterization of 151 mut-type methylmalonic aciduria patients and identification of 41 novel mutations in MUT.

PubMed ID: 27167370

DOI: 10.1002/humu.23013

PubMed ID: 26615597

Title: Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia.

PubMed ID: 26615597

DOI: 10.1007/8904_2014_297

PubMed ID: 28101778

Title: Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.

PubMed ID: 28101778

DOI: 10.1007/s12519-016-0085-z

Sequence Information:

  • Length: 750
  • Mass: 83134
  • Checksum: B5909729C08B562F
  • Sequence:
    • MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ LKGKNPEDLI 
WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY TFRPWTIRQY AGFSTVEESN 
KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN PRVRGDVGMA GVAIDTVEDT KILFDGIPLE 
KMSVSMTMNG AVIPVLANFI VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK 
IIADIFEYTA KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE 
FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH CQTSGWSLTE 
QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK SARIARNTQI IIQEESGIPK 
VADPWGGSYM MECLTNDVYD AALKLINEIE EMGGMAKAVA EGIPKLRIEE CAARRQARID 
SGSEVIVGVN KYQLEKEDAV EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC 
AASGDGNILA LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA 
IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL FQTPREVAQQ 
AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM CGGVIPPQDY EFLFEVGVSN 
VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV

Genular Protein ID: 2109419449

Symbol: B2R6K1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2R6K1

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 3 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 2 IntAct 1 InterPro 6 KEGG 1 NCBI Taxonomy 1 NCBIfam 2 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 2 RefSeq 1 Rhea 2 SUPFAM 2

Sequence Information:

  • Length: 750
  • Mass: 83032
  • Checksum: 7D49B0A1F5ED0EEF
  • Sequence:
    • MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ LKGKNPEDLI 
WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY TFRPWTIRQY AGFSTVEEGN 
KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN PRVRGDVGMA GVAIDTVEDT KILFDGIPLE 
KMSVSMTMNG AVIPVLANFI VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK 
IIADIFEYTA KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE 
FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH CQTSGWSLTE 
QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK SARIARNTQI IIQEESGIPK 
VADPWGGSYM MECLTNDVYD AALKLINEIE EMGGMAKAVA EGIPKLRIEE CAARRQARID 
SGSEVIVGVN KYQLEKEDAV EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC 
AASGDGNILA LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQG FGESKEITSA 
IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL FQTPREVAQQ 
AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM CGGVIPPQDY EFLFEVGVSN 
VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV

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.