AutismKB 2.0

Annotation Details for MUT


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Basic Information Top
Gene Symbol:MUT ( MCM )
Gene Full Name: methylmalonyl CoA mutase
Band: 6p12.3
Quick LinksEntrez ID:4594; OMIM: 609058; Uniprot ID:MUTA_HUMAN; ENSEMBL ID: ENSG00000146085; HGNC ID: 7526
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739TAS-mitochondrion2567699
GO:0005759TAS-mitochondrial matrix-
GO ID Evidence Qualifier GO_term References
GO:0004494IMP-methylmalonyl-CoA mutase activity27167370
GO:0031419IEA-cobalamin binding-
GO:0046872IEA-metal ion binding-
GO:0072341IDA-modified amino acid binding20031578
GO ID Evidence Qualifier GO_term References
GO:0009235TAS-cobalamin metabolic process-
GO:0009791IEA-post-embryonic development-
GO:0019626TAS-short-chain fatty acid catabolic process-
GO:0050667IDA-homocysteine metabolic process20031578
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97239
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018