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Antibody detects endogenous levels of total TMC7.
TMC7 (Transmembrane channel-like protein 7) is a 723 amino acid protein that is a member of the TMC protein family. All TMC genes encode transmembrane proteins with intracellular amino- and carboxy- termini and at least eight membrane spanning domains. Therefore, TMC7 is a multi-pass membrane protein that may regulate or function as an ion channel or transporter. The gene encoding TMC7 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
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Protein Aliases: transmembrane channel-like 7; Transmembrane channel-like protein 7
Gene Aliases: 1700030H01Rik; C230064B05; C630024K23Rik; RGD1564267; TMC7
UniProt ID: (Human) Q7Z402, (Mouse) Q8C428
Entrez Gene ID: (Human) 79905, (Mouse) 209760, (Rat) 499254
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