TMC domain
IPR012496
Definition
These sequences are similar to a region conserved amongst various protein products of the transmembrane channel-like (TMC) gene family, such as Transmembrane channel-like protein 3 ([swissprot:Q7TN63]) and EVIN2 ([swissprot:Q8IU68]) - this region is termed the TMC domain PMID:12906855. Mutations in these genes are implicated in a number of human conditions, such as deafness and epidermodysplasia verruciformis PMID:12906855. TMC proteins are thought to have important cellular roles, and may be modifiers of ion channels or transporters PMID:12812529.
8 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
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