Bartter syndrome, infantile, with sensorineural deafness (Barttin)
barttin
Biotype
protein coding gene
Automated Description
Enables chloride channel regulator activity. Involved in chloride transport. Predicted to be located in plasma membrane. Predicted to be part of protein-containing complex. Predicted to be active in basolateral plasma membrane. Human ortholog(s) of this gene implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss. Orthologous to human BSND (barttin CLCNK type accessory subunit beta).
RGD Description
Enables chloride channel regulator activity. Involved in chloride transport. Predicted to be located in plasma membrane. Predicted to be part of protein-containing complex. Predicted to be active in basolateral plasma membrane. Human ortholog(s) of this gene implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss. Orthologous to human BSND (barttin CLCNK type accessory subunit beta); INTERACTS WITH ammonium chloride; cefaloridine; flusilazole.