TTC8

TTC8

Symbol	TTC8
HGNC ID	12345
Alternative symbols	–
Entrez Gene	123456
OMIM	123456
RefSeq	NM_123456
UniProt	Q12345
Chromosome	14q31
Locus supplementary data	–

TTC8 (Tetratricopeptide repeat protein 8) is a gene that encodes a protein involved in ciliogenesis and is associated with Bardet-Biedl syndrome (BBS). The TTC8 protein contains multiple tetratricopeptide repeat (TPR) domains, which are known to mediate protein-protein interactions.

Function

The TTC8 gene is crucial for the normal functioning of cilia, which are hair-like structures on the surface of cells that play important roles in cell movement and signaling. Mutations in the TTC8 gene can disrupt ciliary function, leading to a range of clinical features characteristic of Bardet-Biedl syndrome, such as retinal degeneration, obesity, polydactyly, and renal abnormalities.

Clinical Significance

Mutations in the TTC8 gene are one of the genetic causes of Bardet-Biedl syndrome, a rare autosomal recessive disorder. Genetic testing for TTC8 mutations can be part of the diagnostic process for individuals suspected of having Bardet-Biedl syndrome. Understanding the role of TTC8 in ciliary function helps in elucidating the pathogenesis of the syndrome and may guide future therapeutic strategies.

Interactions

TTC8 interacts with other proteins involved in the BBSome complex, a group of proteins that are essential for the proper functioning of cilia. These interactions are critical for the assembly and stability of the BBSome complex, which is necessary for ciliary membrane biogenesis and signaling.

Research

Ongoing research is focused on understanding the detailed mechanisms by which TTC8 and the BBSome complex contribute to ciliary function and how their dysfunction leads to the clinical manifestations of Bardet-Biedl syndrome. Animal models and cellular studies are used to explore potential therapeutic interventions.

See also

• Ciliopathy
• Genetic disorder
• Protein-protein interaction

References

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