MMACHC

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Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MMACHC ; RP11-291L19.3; cblC
External IDs OMIM609831 MGI1914346 HomoloGene12082 GeneCards: MMACHC Gene
Orthologs
Species Human Mouse
Entrez 25974 67096
Ensembl ENSG00000132763 ENSMUSG00000028690
UniProt Q9Y4U1 Q9CZD0
RefSeq (mRNA) NM_015506 NM_025962
RefSeq (protein) NP_056321 NP_080238
Location (UCSC) Chr 1:
45.97 – 45.98 Mb
Chr 4:
116.7 – 116.71 Mb
PubMed search [1] [2]

Methylmalonic aciduria and homocystinuria type C protein also known as MMACHC is a protein that in humans is encoded by the MMACHC gene.[1]

Function[edit]

The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake.[1]

Clinical significance[edit]

Mutations are associated with methylmalonic acidemia.[1][2][3][4]

References[edit]

  1. ^ a b c Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type". Nat. Genet. 38 (1): 93–100. doi:10.1038/ng1683. PMID 16311595. 
  2. ^ Ben-Omran TI, Wong H, Blaser S, Feigenbaum A (May 2007). "Late-onset cobalamin-C disorder: a challenging diagnosis". Am. J. Med. Genet. A 143A (9): 979–84. doi:10.1002/ajmg.a.31671. PMID 17431913. 
  3. ^ Morel CF, Lerner-Ellis JP, Rosenblatt DS (August 2006). "Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations". Mol. Genet. Metab. 88 (4): 315–21. doi:10.1016/j.ymgme.2006.04.001. PMID 16714133. 
  4. ^ Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (October 2007). "Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance". Am. J. Med. Genet. A 143A (20): 2430–4. doi:10.1002/ajmg.a.31932. PMID 17853453. 

Further reading[edit]

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