Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''TTC8''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
TTC8 is associated with
gamma-tubulin,
BBS4
Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the ''BBS4'' gene.
This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have be ...
, and
PCM1
Pericentriolar material 1, also known as PCM1, is a protein which in humans is encoded by the ''PCM1'' gene.
Function
The PCM1 protein was originally identified by virtue of its distinct cell cycle-dependent association with the centrosome com ...
in the
centrosome
In cell biology, the centrosome (Latin centrum 'center' + Greek sōma 'body') (archaically cytocentre) is an organelle that serves as the main microtubule organizing center (MTOC) of the animal cell, as well as a regulator of cell-cycle prog ...
.
PCM1 in turn is involved in
centriolar replication during
ciliogenesis
Ciliogenesis is defined as the building of the cell's antenna ( primary cilia) or extracellular fluid mediation mechanism ( motile cilium). It includes the assembly and disassembly of the cilia during the cell cycle. Cilia are important organell ...
.
TTC8 is located in the cilia of
spermatid
The spermatid is the haploid male gametid that results from division of secondary spermatocytes. As a result of meiosis, each spermatid contains only half of the genetic material present in the original primary spermatocyte.
Spermatids are co ...
s,
retina
The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...
, and
bronchial
A bronchus is a passage or airway in the lower respiratory tract that conducts air into the lungs. The first or primary bronchi pronounced (BRAN-KAI) to branch from the trachea at the carina are the right main bronchus and the left main bronchus. ...
epithelium cells.
Clinical significance
Mutations in the TTC8 gene is one of 14 genes
[
]
identified as causal for
Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in so ...
.
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndromea
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