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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: 50.28 – 50.3 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 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

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.
  6. ^ "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria".

Further reading

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



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MMADHC
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