MMADHC

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Identifiers
Symbols MMADHC ; C2orf25; CL25022; cblD
External IDs OMIM611935 MGI1923786 HomoloGene9248 GeneCards: MMADHC Gene
Orthologs
Species Human Mouse
Entrez 27249 109129
Ensembl ENSG00000168288 ENSMUSG00000026766
UniProt Q9H3L0 Q99LS1
RefSeq (mRNA) NM_015702 NM_133839
RefSeq (protein) NP_056517 NP_598600
Location (UCSC) Chr 2:
150.43 – 150.44 Mb
Chr 2:
50.28 – 50.3 Mb
PubMed search [1] [2]

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.[1]

Function[edit]

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans.[2]

Clinical significance[edit]

Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.[1]

References[edit]

  1. ^ a b Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B (April 2008). "Gene identification for the cblD defect of vitamin B12 metabolism". N. Engl. J. Med. 358 (14): 1454–64. doi:10.1056/NEJMoa072200. PMID 18385497. 
  2. ^ "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria". 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.