GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: MMADHC

id27249
symbolMMADHC
organismHomo sapiens
full namemetabolism of cobalamin associated D
summaryThis 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. 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. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
variant-disease

NM_015702.2(MMADHC):c.57_64delCTCTTTAG (p.Ser20Terfs) AND Methylmalonic aciduria, cblD type, variant 2

NM_015702.2(MMADHC):c.696+3_696+6del AND Methylmalonic acidemia with homocystinuria cblD

NM_015702.2(MMADHC):c.133dupG (p.Ala45Glyfs) AND Methylmalonic acidemia with homocystinuria cblD

NM_015702.2(MMADHC):c.*267T>C AND Disorders of Intracellular Cobalamin Metabolism

NM_015702.2(MMADHC):c.10-3T>C AND Disorders of Intracellular Cobalamin Metabolism

... 111 more


Partner site webseite screenshot on site-shot.com.