Gene Symbol | KIAA0753 |
Entrez Gene ID | 9851 |
Full Name | KIAA0753 |
Synonyms | MNR,OFIP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, May 2017]. |
Disorder MIM: | |
Disorder Html: | ?Orofaciodigital syndrome XV, 617127 (3) |