Aliases for TTYH1 Gene
External Ids for TTYH1 Gene
Previous GeneCards Identifiers for TTYH1 Gene
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]
GeneCards Summary for TTYH1 Gene
TTYH1 (Tweety Family Member 1) is a Protein Coding gene. Diseases associated with TTYH1 include Pediatric Infratentorial Ependymoma and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include calcium ion binding and iron ion transmembrane transporter activity. An important paralog of this gene is TTYH2.