Aliases for CEP104 Gene
External Ids for CEP104 Gene
Previous HGNC Symbols for CEP104 Gene
Previous GeneCards Identifiers for CEP104 Gene
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
GeneCards Summary for CEP104 Gene
CEP104 (Centrosomal Protein 104) is a Protein Coding gene. Diseases associated with CEP104 include Joubert Syndrome 25 and Joubert Syndrome 1. Gene Ontology (GO) annotations related to this gene include binding and glutamate binding.
UniProtKB/Swiss-Prot Summary for CEP104 Gene
Required for ciliogenesis and for structural integrity at the ciliary tip.