CFAP418

cilia and flagella associated protein 418

2 disorders 2 untyped 8q22.1 gene with protein product

HGNC:27232 Monarch NCBI Gene 157657 ENSG00000156172 UniProt Q96NL8 OMIM 614477

Previous symbols: C8orf37. Aliases: MOT25, FLJ30600, CORD16, RP64, BBS21, FAP418, SMALLTALK.

Normal function · from ai-gene-review (Q96NL8, commit 79fe13b38970) · AI-generated, not KB evidence

CFAP418 (C8orf37) is a ciliary scaffolding protein localized at the photoreceptor connecting cilium base that is essential for photoreceptor outer segment disc morphogenesis and organization. It forms a protein complex with FAM161A at the ciliary base, contributing to photoreceptor structural integrity and survival. Mutations cause retinal dystrophies including cone-rod dystrophy 16 (CORD16), retinitis pigmentosa 64 (RP64), and Bardet-Biedl syndrome 21 (BBS21).

Scaffolds protein complexes at photoreceptor connecting cilium base to organize ciliary trafficking machinery

molecular function: scaffold protein binding · directly involved in: photoreceptor cell outer segment organization; cell projection organization · locations: ciliary base; photoreceptor inner segment

Organizes FAM161A-containing protein complex essential for photoreceptor outer segment disc morphogenesis

molecular function: scaffold protein binding · directly involved in: photoreceptor cell morphogenesis; eye photoreceptor cell differentiation · locations: ciliary base

Mediates ciliary trafficking required for photoreceptor outer segment protein transport and maintenance

molecular function: scaffold protein binding · directly involved in: intraciliary transport; photoreceptor cell outer segment organization · locations: ciliary base

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
Bardet-Biedl syndrome	untyped Pathogenic biallelic variants
CFAP418-related retinal ciliopathy	untyped Pathogenic biallelic loss-of-function and missense variants	mechanism: CFAP418 Loss of Function at the Photoreceptor Ciliary Base

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
ciliopathy MONDO:0005308	AR	Definitive 2024-07-11	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via CFAP418-related retinal ciliopathy

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