CFAP43

cilia and flagella associated protein 43

2 disorders 1 susceptibility 1 untyped 10q25.1 gene with protein product

HGNC:26684 Monarch NCBI Gene 80217 ENSG00000197748 UniProt Q8NDM7 OMIM 617558

Previous symbols: C10orf79, WDR96. Aliases: FLJ36006, bA373N18.2, FLJ22944.

Normal function · from ai-gene-review (Q8NDM7, commit e7236877cf14) · AI-generated, not KB evidence

CFAP43 is a conserved axonemal protein with an N-terminal WD-repeat region and an extended C-terminal coiled-coil region. Together with CFAP44 it forms the tether/tether-head complex associated with inner dynein arm f and the doublet microtubule surface. Its structural integration links axonemal organization to coordinated ciliary beating. Human respiratory axoneme structures identify CFAP43 in this machinery, while human infertility and mouse loss-of-function studies establish a requirement for normal sperm flagellar architecture and motility. Respiratory cilia can remain assembled while their beat frequency and fluid transport are altered. The relative requirements for this complex vary across tissues and organisms, and the functional differences among the five human alternative products remain unresolved.

CFAP43 supplies part of the tether/tether-head structure with CFAP44 along axonemal doublet microtubules in motile cilia and sperm flagella. Native human respiratory-axoneme models identify the canonical-sequence protein in conserved inner-dynein-arm docking machinery. In Tetrahymena, removing FAP43 destabilizes the position of retained I1 motor domains; mouse respiratory cilia can remain grossly assembled while Cfap43 loss changes beat frequency and transport. These complementary structural and functional observations support a conserved mechanical contribution to coordinated beating, including frequency modulation, rather than an intrinsic motor or kinase activity. The precise frequency-setting mechanism has not been isolated in human. Sperm axoneme organization and sperm movement are tissue manifestations of this structural role; severe sperm architecture defects do not imply universal failure of cilium initiation.

molecular function: structural constituent of cytoskeleton · directly involved in: cilium movement; sperm axoneme assembly; regulation of cilium beat frequency · locations: axoneme

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
Normal Pressure Hydrocephalus	susceptibility
Spermatogenic Failure 19	untyped Causal CLINGEN: definitive	mechanism: Loss of the CFAP43 Tether Protein; Partial CFAP43 Loss from Missense Alleles

ClinGen gene–disease validity · snapshot 2026-10-24 · 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
normal pressure hydrocephalus MONDO:0009366	AD	Disputed 2026-04-09	Normal Pressure Hydrocephalus susceptibility
primary ciliary dyskinesia MONDO:0016575	AR	Limited 2026-04-09	Primary_Ciliary_Dyskinesia not named
spermatogenic failure 19 MONDO:0054723	AR	Definitive 2022-12-14	Spermatogenic Failure 19 untyped

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.