HPS3 Q969F9

BLOC-2复合体成员HPS3 (Hermansky-Pudlak综合征3蛋白)

蛋白质信息 (UniProt)

BLOC-2复合体成员HPS3 (Hermansky-Pudlak综合征3蛋白)

Q969F9

功能描述

参与黑素体生物发生和成熟的早期阶段。 {ECO:0000250|UniProtKB:Q91VB4}。

组织特异性

Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.

亚细胞定位

Cytoplasm

关键词

Albinism Alternative splicing Cytoplasm Disease variant Hermansky-Pudlak syndrome Proteomics identification Reference proteome

UniProt: Q969F9

NCBI Gene

GeneCards