NP_001120670.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
transmembrane channel-like protein 6
NCBI Official Synonym Full Names
transmembrane channel-like 6
NCBI Protein Information
transmembrane channel-like protein 6
UniProt Protein Name
Transmembrane channel-like protein 6
UniProt Synonym Protein Names
Epidermodysplasia verruciformis protein 1; Protein LAK-4
UniProt Synonym Gene Names
UniProt Entry Name
TMC6_HUMAN
NCBI Summary for TMC6
Epidermodysplasia verruciformis (EV) is 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. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
UniProt Comments for TMC6
TMC6: Defects in TMC6 are a cause of epidermodysplasia verruciformis (EV). It is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions. Belongs to the TMC family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; nuclear membrane; endoplasmic reticulum; cytoplasm; integral to membrane
Molecular Function: protein binding
Biological Process: ion transport
Disease: Epidermodysplasia Verruciformis
Product References and Citations for anti-TMC6 antibody
McDermott, D.F., et al. Pediatr Dermatol 26(3):306-310(2009) Lazarczyk, M., et al. J. Exp. Med. 205(1):35-42(2008) Zuo, Y.G., et al. J. Dermatol. Sci. 44(3):153-159(2006) Olsen, J.V., et al. Cell 127(3):635-648(2006) Donfack, J., et al. Int. J. Pediatr. Otorhinolaryngol. 70(7):1235-1240(2006)
Research Articles on TMC6
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Diseases associated with anti-TMC6 antibody
Organs/Tissues associated with anti-TMC6 antibody
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