Biology:MMADHC
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Short description: Protein-coding gene in humans
 Generic protein structure example |
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.[1]
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.[2]
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.[1]
References
- ↑ 1.0 1.1 "Gene identification for the cblD defect of vitamin B12 metabolism". N. Engl. J. Med. 358 (14): 1454–64. April 2008. doi:10.1056/NEJMoa072200. PMID 18385497. http://bura.brunel.ac.uk/handle/2438/2854.
- ↑ "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27249.
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
- "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724–31. 2005. doi:10.1038/nature03466. PMID 15815621. Bibcode: 2005Natur.434..724H.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "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. 2000. doi:10.1101/gr.140200. PMID 11042152.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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