MMADHC

MMADHC
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type, metabolism of cobalamin associated D
External IDsMGI: 1923786 HomoloGene: 9248 GeneCards: MMADHC
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q23.2Start149,569,634 bp[1]
End149,587,816 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

27249

109129

Ensembl

ENSG00000168288

ENSMUSG00000026766

UniProt

Q9H3L0

Q99LS1

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000168288 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026766 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 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

  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Zhang QH, Ye M, Wu XY, et al. (2000). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.

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


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