MMADHC

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MMADHC
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type
External IDs MGI: 1923786 HomoloGene: 9248 GeneCards: MMADHC
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for MMADHC
Genomic location for MMADHC
Band 2q23.2 Start 149,569,634 bp[1]
End 149,587,816 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015702

NM_133839
NM_001348198
NM_001348199
NM_001348200

RefSeq (protein)

NP_056517

NP_598600
NP_001335127
NP_001335128
NP_001335129

Location (UCSC) Chr 2: 149.57 – 149.59 Mb Chr 2: 50.28 – 50.3 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.[5]

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.[6]

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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168288 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026766 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ "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.