MMADHC

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MMADHC
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type, metabolism of cobalamin associated D
External IDsOMIM: 611935 MGI: 1923786 HomoloGene: 9248 GeneCards: MMADHC
Orthologs
SpeciesHumanMouse
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 MbChr 2: 50.17 – 50.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

This gene encodes a protein localized in cytosol and mitochondria 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

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

  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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 15107040.
  6. ^ "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria".

External links

Further reading

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