Entity Details

Primary name CFAP43
Entity type gene
Source Source Link

Details

PrimaryID80217
RefseqGeneNG_051581
SymbolCFAP43
Namecilia and flagella associated protein 43
Chromosome10
Location10q25.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCFA43_HUMAN

GO terms

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GOName
GO:0003356 regulation of cilium beat frequency
GO:0005576 extracellular region
GO:0005930 axoneme
GO:0007288 sperm axoneme assembly
GO:0007420 brain development
GO:0044458 motile cilium assembly
GO:0060271 cilium assembly
GO:0090660 cerebrospinal fluid circulation
GO:0097729 9+2 motile cilium
GO:0120197 mucociliary clearance

Diseases

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Disease IDSourceNameDescription
617592 OMIMSpermatogenic failure 19 (SPGF19)An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The disease is caused by variants affecting the gene represented in this entry.
236690 OMIMHydrocephalus, normal pressure, 1 (HYDNP1)An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
CFAP43SEC13BioGRID32296183 details
CFAP43H3-4BioGRID, IntAct30021884 details
CFAP43YWHAEBioGRID20462248 details
CFAP43CUL7BioGRID31343991 details
CFAP43CITBioGRID31586073 details