检测编号：NA0010002

基因 PCCA 与疾病

在丙酸血症患病人群中已经确定有超过45种PCCA基因的突变。这些突变包括改变DNA单个核苷酸以及PCCA基因遗传物质的片段插入或的缺失。PCCA突变导致了机体无法生产功能丙酰辅酶A羧化酶或减少了它的酶活性。受影响的酶无法正常的加工某些蛋白质和脂质。其结果是，丙酰基辅酶A和其它一些潜在的有害化合物在体内积聚而导致毒性。这种累积会损害大脑和神经系统，造成了丙酸血症的严重症状。

基因名称	基因全名	基因位置	外显子个数	CDS长度
PCCA	propionyl CoA carboxylase, alpha polypeptide	13q32	24	约2564 bp
基因摘要	The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].

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].