CEP104, Official Symbol CEP104provided by HGNC Official Full Name centrosomal protein 104provided by HGNC Primary source HGNC:HGNC:24866 See related Ensembl:ENSG00000116198 MIM:616690; AllianceGenome:HGNC:24866 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GlyBP; MRT77; ROC22; JBTS25; CFAP256; KIAA0562 Summary 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] Expression Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.5) and 25 other tissues See more Orthologs mouse all