C19orf44

chromosome 19 open reading frame 44

Ensembl:: ENSG00000105072
UniProt:: Q9H6X5
OMIM:: 621208
Synonyms:: FLJ21742, FCAP71

Subcellular localization

basal body, cilia, nuclear bodies, nucleoplasm

Function

FCAP71 localized to the base of cilia, marked by CEP164 (PMID: 41184298). C19orf44 is crucial for normal human retinal function, and pathogenic variants in this gene are associated with autosomal recessive inherited retinal disease(PMID: 40079362).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.