About: MMADHC wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • MMADHC wt Allele
rdfs:subClassOf
OMIM_Number
  • 611935
GenBank_Accession_Number
  • BC023995
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MMADHC wt Allele
UMLS_CUI
  • C2698587
EntrezGene_ID
  • 27249
Legacy_Concept_Name
  • C2orf25_wt_Allele
HGNC_ID
  • HGNC:25221
FULL_SYN
  • Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria wt AlleleSYNCI
  • MMADHC wt AllelePTNCI
  • cblDSYNCI
  • My011SYNCI
  • Chromosome 2 Open Reading Frame 25 GeneSYNCI
  • CL25022SYNCI
  • HSPC161SYNCI
  • C2orf25SYNCI
  • Methylmalonic Aciduria, cblD Type, and Homocystinuria GeneSYNCI
DEFINITION
  • Human MMADHC wild-type allele is located in the vicinity of 2q23.2 and is approximately 18 kb in length. This allele, which encodes Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, plays a role in the mediation of vitamin B12 metabolism. Mutation of the gene is associated with some cases of homocystinuria, and methylmalonic aciduria.NCIOMIM
code
  • C74466
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