MMADHC

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]

MMADHC
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5CUZ, 5CV0
Identifiers
Aliases	MMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type, metabolism of cobalamin associated D
External IDs	OMIM: 611935 MGI: 1923786 HomoloGene: 9248 GeneCards: MMADHC
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q23.2 Start 149,569,637 bp[1] End 149,587,778 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 C1.1 Start 50,279,881 bp[2] End 50,296,801 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytosol • mitochondrion • cytoplasm Biological process • cobalamin metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 2: 50.28 – 50.3 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000168288 - Ensembl, May 2017
2. 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. 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

• GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMADHC)

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.