Propionic acidemia(丙酸血症) |
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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]. |