CFAP57

cilia and flagella associated protein 57

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000243710
UniProt:: Q96MR6
OMIM:: 614259
Synonyms:: FLJ32000, WDR65

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: abnormal skeletal muscle morphology, abnormal spil cord morphology, acute inflammation, decreased exploration in new environment

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:32764743

Subcellular localization

cilia

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:32764743

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm
Cell migration & adhesion

Function

Also known as WDR65. Required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas. In normal human sal epithelial cells, CFAP57 localizes throughout the ciliary axoneme. Homozygous nonsense variant found in one PCD case (32764743)

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