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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''TTC8''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
Function or functionality may refer to:
Computing
* Function key, a type of key on computer keyboards
* Function model, a structured representation of processes in a system
* Function object or functor or functionoid, a concept of object-orie ...
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 b ...
, 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 progre ...
.
PCM1 in turn is involved in
centriolar replication during
ciliogenesis
Ciliogenesis is defined as the building of the cell's Cellular antenna, antenna (primary cilium, primary cilia) or extracellular fluid mediation mechanism (motile cilia, motile cilium). It includes the assembly and disassembly of the cilia duri ...
.
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 (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional ...
, and
bronchial
A bronchus ( ; : bronchi, ) is a passage or airway in the lower respiratory tract that conducts Atmosphere of Earth, air into the lungs. The first or primary bronchi to branch from the trachea at the Carina of trachea, carina are the right main b ...
epithelium
Epithelium or epithelial tissue is a thin, continuous, protective layer of cells with little extracellular matrix. An example is the epidermis, the outermost layer of the skin. Epithelial ( mesothelial) tissues line the outer surfaces of man ...
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 ...
.
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndromea
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