Gene: CEP290

Alternate names for this Gene: 3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16

Gene Summary: This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.32

Description of this Gene: centrosomal protein 290

Type of Gene: protein-coding

Gene: TMTC3

Alternate names for this Gene: LIS8|SMILE

Gene Summary: This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family.

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.32

Description of this Gene: transmembrane O-mannosyltransferase targeting cadherins 3

Type of Gene: protein-coding

rs62635288 in CEP290;TMTC3 gene and JOUBERT SYNDROME 5 PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

rs62635288 in CEP290;TMTC3 gene and Leber Congenital Amaurosis PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

rs62635288 in CEP290;TMTC3 gene and SENIOR-LOKEN SYNDROME 6 PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.