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

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

rs758593134 in TMTC3;CEP290 gene and Familial aplasia of the vermis PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs758550675 in TMTC3;CEP290 gene and JOUBERT SYNDROME 5 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs758593134 in TMTC3;CEP290 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs758593134 in TMTC3;CEP290 gene and Meckel-Gruber syndrome PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs758593134 in TMTC3;CEP290 gene and Nephronophthisis PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.