| TMC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TMC8 , EV2, EVER2, EVIN2, transmembrane channel like 8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605829 MGI: 2669037 HomoloGene: 45126 GeneCards: TMC8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene. [5] [6]
The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [6]
Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. [6]
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.
Epidermodysplasia verruciformis (EV), also known as treeman syndrome, is an extremely rare autosomal recessive hereditary skin disorder associated with a high risk of skin cancer. It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin. The resulting uncontrolled HPV infections result in the growth of scaly macules and papules resembling tree bark, particularly on the hands and feet. It is typically associated with HPV types 5 and 8, which are found in about 80% of the normal population as asymptomatic infections, although other types contribute less frequently, among them types 12, 14, 15 and 17.
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.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Laminin subunit beta-3 is a protein that in humans is encoded by the LAMB3 gene.
Protein-glutamine gamma-glutamyltransferase E is an enzyme that in humans is encoded by the TGM3 gene.
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
Loricrin is a protein that in humans is encoded by the LOR gene.
Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.
Corneodesmosin is a protein that in humans is encoded by the CDSN gene.
Envoplakin is a protein that in humans is encoded by the EVPL gene.
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.
Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.
P2X purinoceptor 5 is a protein that in humans is encoded by the P2RX5 gene.
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.
Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.
Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits indicating TMC1 is a molecular part of auditory transduction.
Anoctamin-1 (ANO1) also known as Transmembrane member 16A (TMEM16A) is a protein that, in humans, is encoded by the ANO1 gene. Anoctamin-1 is a voltage-gated calcium-activated anion channel, which acts as a chloride channel and a bicarbonate channel. additionally Anoctamin-1 is apical iodide channel. It is expressed in smooth muscle, epithelial cells, vomeronasal neurons, olfactory sustentacular cells, and is highly expressed in interstitial cells of Cajal (ICC) throughout the gastrointestinal tract.
Gérard Orth was born on February 7, 1936, in Paris is a French virologist, emeritus research director at the CNRS, honorary professor at the Pasteur Institute.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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