CFAP410 O43822

纤毛和鞭毛相关蛋白410 (C21orf-HUMF09G8.5) (富含亮氨酸重复序列蛋白76) (YF5/A2)

蛋白质信息 (UniProt)

纤毛和鞭毛相关蛋白410 (C21orf-HUMF09G8.5) (富含亮氨酸重复序列蛋白76) (YF5/A2)

O43822

功能描述

在纤毛形成和/或维持中发挥作用 (By similarity)。在细胞形态和细胞骨架组织的调节中发挥作用 (PubMed:21834987)。参与DNA损伤修复 (PubMed:26290490)。 {ECO:0000250|UniProtKB:Q8C6G1, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:26290490}.

组织特异性

Widely expressed (PubMed:26974433, PubMed:9325172). Expressed in the retina (PubMed:26294103).

亚细胞定位

Mitochondrion

关键词

3D-structure Alternative splicing Cell projection Ciliopathy Cilium biogenesis/degradation Cytoplasm Cytoskeleton Disease variant DNA damage Dwarfism

外部链接

UniProt: O43822

NCBI Gene

GeneCards