CFAP410

cilia and flagella associated protein 410

2 disorders 1 untyped 1 causative 21q22.3 gene with protein product

HGNC:1260 Monarch NCBI Gene 755 ENSG00000160226 UniProt O43822 OMIM 603191

Previous symbols: C21orf2. Aliases: YF5, A2, LRRC76.

Normal function · from ai-gene-review (O43822, commit 79fe13b38970) · AI-generated, not KB evidence

CFAP410 (C21ORF2/LRRC76) is a leucine-rich-repeat-containing protein that associates with NEK1 and is required for primary-cilium formation and function. It localizes to ciliary basal bodies and photoreceptor ciliary structures and also has a cytoplasmic pool. Loss or pathogenic variants impair ciliogenesis, with associated intraflagellar-transport and Hedgehog-signaling defects in human cellular models. CFAP410 also supports homologous-recombination repair of DNA double-strand breaks through a mechanism linked to NEK1; a catalytic activity of CFAP410 itself has not been established. Biallelic variants cause retinal ciliopathies with variable skeletal involvement, and some variants are associated with amyotrophic lateral sclerosis.

Associate with NEK1 at the ciliary base to support primary-cilium assembly and function; the precise biochemical contribution of CFAP410 to the complex remains unresolved.

molecular function: protein serine/threonine kinase binding · directly involved in: non-motile cilium assembly · locations: ciliary basal body

Support efficient homologous-recombination repair in association with NEK1. CFAP410 is not established as a repair enzyme or as a protein recruited directly to DNA lesions.

molecular function: protein serine/threonine kinase binding · directly involved in: double-strand break repair via homologous recombination · locations: cytoplasm

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Axial Spondylometaphyseal Dysplasia	causative	variant: CFAP410 c.218G>C (p.Arg73Pro); CFAP410 c.319T>C (p.Tyr107His); CFAP410 c.347C>T (p.Pro116Leu); CFAP410 c.545+1G>A; CFAP410 c.643-23A>T
Amyotrophic Lateral Sclerosis	untyped Pathogenic Variants

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
amyotrophic lateral sclerosis MONDO:0004976	SD	Limited 2023-12-12	Amyotrophic Lateral Sclerosis untyped
ciliopathy MONDO:0005308	AR	Definitive 2026-01-15	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.