检测编号：NA0020004

基因 MMAA 与疾病

MMAA基因编码的产物MMAA蛋白是甲基丙二酰辅酶A变位酶发挥作用过程中的必须物质，已发现25种MMAA基因突变，包括插入、缺失和点突变，这些基因突变导致甲基丙酰辅酶A发挥作用受阻。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MMAA	methylmalonic aciduria (cobalamin deficiency) cblA type	4q31.21	7	约5943 bp
基因摘要	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008].

基因 MMAB 与疾病

MMAB基因编码的产物是腺苷钴胺素（AdoCbl)形成过程中的关键酶，在线粒体中发挥作用，是维生素B12(钴胺素）的前体。已发现至少25种MMAB突变，包括插入、缺失和点突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MMAB	methylmalonic aciduria (cobalamin deficiency) cblB type	12q24	10	约4225 bp
基因摘要	This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011].

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].

基因 MUT 与疾病

已经发现200多种MUT突变，约60%的甲基丙二酸血症是由于MUT基因突变引起。MUT基因编码甲基丙二酰辅酶A变位酶，与维生素B12（也称氰钴胺素）共同作用，打破某些蛋白质结构、脂肪和胆固醇，一些突变导致功能丧失或数量锐减，导致临床mut0症状病症严重且预后差；其他一些突变改变甲基丙二酰辅酶A变位酶结构，但不消除其活性，临床表现为mut-，症状稍轻。此亚型显著特征是血清钴胺素浓度不变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MUT	methylmalonyl CoA mutase	6p12.3	13	约3886 bp
基因摘要	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008].