LSS P48449

羊毛甾醇合酶 (EC 5.4.99.7) (2,3-环氧角鲨烯——羊毛甾醇环化酶) (氧化角鲨烯——羊毛甾醇环化酶) (OSC) (hOSC)

蛋白质信息 (UniProt)

羊毛甾醇合酶 (EC 5.4.99.7) (2,3-环氧角鲨烯——羊毛甾醇环化酶) (氧化角鲨烯——羊毛甾醇环化酶) (OSC) (hOSC)

P48449

功能描述

胆固醇生物合成途径中的关键酶。催化(S)-2,3环氧角鲨烯环化生成羊毛甾醇，该反应形成甾醇核 (PubMed:14766201, PubMed:26200341, PubMed:7639730)。通过产生羊毛甾醇，可能调节晶状体蛋白聚集并增加透明度 (PubMed:26200341)。 {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:26200341, ECO:0000269|PubMed:7639730}。

组织特异性

Widely expressed. Expressed in the hair bulb, the outer root sheath and hair matrix of the hair follicle epithelium. Also detected in dermal papilla, epidermis, sweat glands, sebaceous glands, and blood vessels.

亚细胞定位

Endoplasmic reticulum membrane

关键词

3D-structure Acetylation Alternative splicing Cataract Direct protein sequencing Disease variant Endoplasmic reticulum Hypotrichosis Intellectual disability Isomerase

外部链接

UniProt: P48449

NCBI Gene

GeneCards