KIAA0753

This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]

Description

KIAA0753

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

17:p13.1 (6578147 - 6640711)

Ensembl ID

ENSG00000198920  (ver. 99.38)

Orthologs

-

UniProt

Q2KHM9

neXtProt

NX_Q2KHM9

Human splice variants