SLC27A2 - solute carrier family 27 member 2 Gene

中文名称：溶质载体家族 27 成员 2

种属: Homo sapiens

同用名: VLCS; FATP2; VLACS; ACSVL1; FACVL1; hFACVL1; HsT17226

关于 SLC27A2

功能概要

该基因编码的蛋白质是长链脂肪酸辅酶 A 连接酶家族的同工酶。尽管底物特异性、亚细胞定位和组织分布不同，但该家族的所有同工酶都将游离的长链脂肪酸转化为脂肪酰基辅酶 A 酯，从而在脂质生物合成和脂肪酸降解中发挥关键作用。这种同功酶可激活长链、支链和超长链脂肪酸及其辅酶 A 衍生物中含有 22 个或更多碳原子的脂肪酸。它主要在肝脏和肾脏中表达，并且存在于内质网和过氧化物酶体中，但不存在于线粒体中。其降低的过氧化物酶体酶活性部分导致了 X 连锁肾上腺脑白质营养不良的生化病理学。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2009 年 4 月]

The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A Ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal Enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]