CFAP410

CFAP410
Identifiers
Aliases	CFAP410, LRRC76, YF5/A2, chromosome 21 open reading frame 2, RDMS, SMDAX, C21orf2, cilia and flagella associated protein 410, Cilia- and flagella-associated protein 410
External IDs	OMIM: 603191; MGI: 1915134; HomoloGene: 3619; GeneCards: CFAP410; OMA:CFAP410 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	44,339,402 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	77,822,739 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; anterior pituitary; ; right frontal lobe; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; nucleus accumbens; ; C1 segment; ; Amygdala; ; putamen; ; apex of heart;
	Top expressed in
	right kidney; ; dentate gyrus of hippocampal formation granule cell; ; superior frontal gyrus; ; primary visual cortex; ; spermatocyte; ; proximal tubule; ; granulocyte; ; pituitary gland; ; lens; ; cumulus cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; molecular function;
Cellular component	plasma membrane; cytoplasm; cell projection; mitochondrion; cytoskeleton; photoreceptor outer segment; photoreceptor connecting cilium; ciliary basal body; cilium; motile cilium;
Biological process	cell projection organization; cytoskeleton organization; regulation of cell shape; cellular response to DNA damage stimulus; smoothened signaling pathway; cilium assembly; motile cilium assembly; cilium movement involved in cell motility;
	Sources:Amigo / QuickGO
Orthologs
	755
	67884
	ENSG00000160226
	ENSMUSG00000020284
	O43822
	Q8C6G1
	NM_001271440; NM_001271441; NM_001271442; NM_004928
	NM_026431
	NP_001258369; NP_001258370; NP_001258371; NP_004919
	NP_080707
	Wikidata
View/Edit Human	View/Edit Mouse

Cilia and Flagella Associated Protein 410 (CFAP410, also known as C21orf2 or LRRC76) is a protein that in humans is encoded by the CFAP410 gene. It is essential for ciliogenesis. Mutations in CFAP410 have been linked to Jeune syndrome, Joubert syndrome, various ciliopathies, and amyotrophic lateral sclerosis.