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CFAP418 Q96NL8

纤毛和鞭毛相关蛋白418

蛋白质信息 (UniProt)

纤毛和鞭毛相关蛋白418

Q96NL8

功能描述

可能参与感光细胞外节盘形态发生 (By similarity)。 {ECO:0000250|UniProtKB:Q3UJP5}。

组织特异性

Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).

亚细胞定位

Cytoplasm

关键词

Bardet-Biedl syndrome Ciliopathy Cone-rod dystrophy Cytoplasm Disease variant Obesity Proteomics identification Reference proteome Retinitis pigmentosa