Transmembrane channel-like protein 6 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 ''TMC6''
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 ...
.
''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
The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ...
, but also to the
nuclear membrane
The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer polar membrane, membranes that in eukaryotic cells surround the Cell nucleus, nucleus, which encloses the genome, genetic material.
The nuclear envelope con ...
and
Golgi apparatus
The Golgi apparatus (), also known as the Golgi complex, Golgi body, or simply the Golgi, is an organelle found in most eukaryotic Cell (biology), cells. Part of the endomembrane system in the cytoplasm, it protein targeting, packages proteins ...
.
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder
epidermodysplasia verruciformis
Epidermodysplasia verruciformis (EV) is a skin condition characterised by wart, warty skin lesions. It results from an abnormal susceptibility to HPV infection (HPV). It is associated with a high lifetime risk of Squamous cell skin cancer, squamo ...
,
which is characterized by abnormal susceptibility to
human papillomavirus
Human papillomavirus infection (HPV infection) is caused by a DNA virus from the ''Papillomaviridae'' family. Many HPV infections cause no symptoms and 90% resolve spontaneously within two years. In some cases, an HPV infection persists and r ...
es (HPVs) of the skin resulting in the growth of scaly
macules
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this sys ...
and
papules
A papule is a small, well-defined bump in the skin. It may have a rounded, pointed or flat top, and may have a dip. It can appear with a stalk, be thread-like or look warty. It can be soft or firm and its surface may be rough or smooth. Some ...
, particularly on the hands and feet.
References
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