检测编号：NS0020006

基因 MMADHC 与疾病

MMADHC基因编码的产物是甲基丙二酰辅酶A变位酶发挥作用过程中的必须物质，这些基因突变导致甲基丙酰辅酶A发挥作用受阻。已发现5个突变点与甲基丙二酸血症有关。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MMADHC	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	2q23.2	8	约1437 bp
基因摘要	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. 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].