TMC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TMC6 , EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6, TNRC6C-AS1, lnc | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605828; MGI: 1098686; HomoloGene: 5258; GeneCards: TMC6; OMA:TMC6 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. [5] [6] 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. [7]
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis, [7] 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.
Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.
Keratin 16 is a protein that in humans is encoded by the KRT16 gene.
ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.
Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions. It results from an abnormal susceptibility to HPV infection (HPV) and is associated with a high lifetime risk of squamous cell carcinomas in skin. It generally presents with scaly spots and small bumps particularly on the hands, feet, face and neck; typically beginning in childhood or in a young adult. The bumps tend to be flat, grow in number and then merge to form plaques. On the trunk, it typically appears like pityriasis versicolor; lesions there being slightly scaly and tan, brown, red or looking pale. On the elbows, it may appear like psoriasis. On the forehead, neck and trunk, the lesions may appear like seborrheic keratosis.
Collagen XVII, previously called BP180, is a transmembrane protein which plays a critical role in maintaining the linkage between the intracellular and the extracellular structural elements involved in epidermal adhesion, identified by Diaz and colleagues in 1990.
Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.
Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.
Myosin-14 is a protein that in humans is encoded by the MYH14 gene.
Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.
Erythroid membrane-associated protein is a protein that in humans is responsible for the Scianna blood group system, and is encoded by the ERMAP gene.
Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.
Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.
Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene. Also known as Cep126, the protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.
Ryanodine receptor 3 is one of a class of ryanodine receptors and a protein that in humans is encoded by the RYR3 gene. The protein encoded by this gene is both a calcium channel and a receptor for the plant alkaloid ryanodine. RYR3 and RYR1 control the resting calcium ion concentration in skeletal muscle.
Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene.
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.
Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene. Espin is a microfilament binding protein.
Gérard Orth was a French virologist, emeritus research director at the CNRS, honorary professor at the Pasteur Institute.