TMC6
Encyclopedia
Transmembrane channel-like protein 6 is a protein
that in humans is encoded by the TMC6 gene
. In vivo, TMC6 and its homolog TMC8
, interact and form a complex with the zinc transporter 1 (SLC30A1
) and localize mostly to the endoplasmic reticulum
, but also to the nuclear membrane and Golgi apparatus
.
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis
, which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the TMC6 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. In vivo, TMC6 and its homolog TMC8
TMC8
Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.-Function:The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels...
, interact and form a complex with the zinc transporter 1 (SLC30A1
SLC30A1
Solute carrier family 30 , member 1 is a protein which in humans is encoded by the SLC30A1 gene.-Function:SLC30A1 modulates zinc permeation through the L-type calcium channel. SLC30A1 downregulates not only Zn++ influx, but also Ca++ influx, thereby protecting cells from the effects of excessive...
) and localize mostly to the endoplasmic reticulum
Endoplasmic reticulum
The endoplasmic reticulum is an organelle of cells in eukaryotic organisms that forms an interconnected network of tubules, vesicles, and cisternae...
, but also to the nuclear membrane and Golgi apparatus
Golgi apparatus
The Golgi apparatus is an organelle found in most eukaryotic cells. It was identified in 1898 by the Italian physician Camillo Golgi, after whom the Golgi apparatus is named....
.
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis
Epidermodysplasia verruciformis
Epidermodysplasia verruciformis is an extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to human papillomaviruses of the skin...
, which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.