检测编号：NS0010002

基因 PCCB 与疾病

PCCA和PCCB基因编码丙酰辅酶A羧化酶的2个亚基，该酶代谢大部分蛋白质、一些脂肪和胆固醇。该酶活性缺失导致丙酰辅酶A和其他一些副产品在体内堆积，主要损害大脑和神经系统。已经发现超过55个PCCB突变基因与丙酸血症有关。这些突变包括单碱基突变和PCCB基因插入或缺失。PCCB突变使丙酰辅酶A羧化酶活性丧失或降低。

基因名称	基因全名	基因位置	外显子个数	CDS长度
PCCB	propionyl CoA carboxylase, beta polypeptide	3q21-q22	16	约1876 bp
基因摘要	The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].