Synonyms:ENTREZ:9851, HGNC:29110, KIAA0753, MIM:617112, MNR, NM_001351225, NM_014804, NP_001338154, NP_055619, NR_147086, NR_147087, NR_147088, OFIP, XM_006721612, XM_011524090, XM_011524091, XM_011524095, XM_011524096, XM_011524098, XM_011524099, XM_011524100, XM_017025455, XP_006721675, XP_011522392, XP_011522393, XP_011522397, XP_011522398, XP_011522400, XP_011522401, XP_011522402, XP_016880944, XR_001752707, XR_001752708, XR_001752709, XR_934126
Omim:OMIM:617112
Id:ENSG00000198920
Hgnc:HGNC:29110
Description: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]