检测编号：NS0070017

基因 HLCS 与疾病

HLCS指导合成羧化全酶合成酶，对于生物素的有效利用具有重要作用，它能够激活生物素依赖型羧化酶。该酶的突变使得一系列的生物素依赖型羧化酶活性缺失。已发现30多个HLCS突变位点，大多是点突变，这些突变大多位于生物素结合域。

基因名称	基因全名	基因位置	外显子个数	CDS长度
HLCS	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	21q22.13	12	约6953 bp
基因摘要	This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011].