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PTCHD1 Q96NR3

含Patched结构域蛋白1

蛋白质信息 (UniProt)

含Patched结构域蛋白1

Q96NR3

功能描述

丘脑网状核(TRN)发育和功能所必需的，TRN是丘脑的一部分，对于丘脑皮层传递、睡眠节律产生、感觉运动处理和注意力至关重要。可在体外结合胆固醇 (PubMed:36769003)。 {ECO:0000250|UniProtKB:Q14B62, ECO:0000269|PubMed:36769003}。

组织特异性

Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.

亚细胞定位

Cell membrane

关键词

Alternative splicing Autism Autism spectrum disorder Cell membrane Cell projection Disease variant Glycoprotein Membrane Proteomics identification Reference proteome

外部链接

UniProt: Q96NR3
NCBI Gene