Gene: KIAA0753

Alternate names for this Gene: MNR|OFIP

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: KIAA0753

Type of Gene: protein-coding

rs1555531363 in KIAA0753 gene and Familial aplasia of the vermis PMID 29138412 2017 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

rs1555531363 in KIAA0753 gene and Jeune thoracic dystrophy PMID 29138412 2017 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.