Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 123016
MIM: 608132
HGNC: 20087
Ensembl: ENSG00000165533
Variants:
dbSNP: 123016
ClinVar: 123016
TCGA: ENSG00000165533
COSMIC: TTC8
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28761321 | 2017 | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. | 13 |
| 28761321 | 2017 | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. | 13 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20451172 | 2010 | A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. | 65 |
| 20451172 | 2010 | A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. | 65 |
| 19077438 | 2009 | Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. | 12 |
| 19402160 | 2009 | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. | 22 |
| 19402160 | 2009 | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. | 22 |
| 19077438 | 2009 | Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. | 12 |
| 19402160 | 2009 | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. | 22 |
| 19402160 | 2009 | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. | 22 |
| 14520415 | 2003 | Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. | 263 |
| 14520415 | 2003 | Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. | 263 |
Citation
Dessen P
TTC8 (tetratricopeptide repeat domain 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75301/ttc8-(tetratricopeptide-repeat-domain-8)
