Bartter syndrome, infantile, with sensorineural deafness pseudogene

This entry is a pseudogene related to Bartter syndrome, infantile, with sensorineural deafness (BSND pseudogene). Bartter syndrome is a group of rare renal tubular disorders involving defective salt reabsorption—mutations in the protein-coding BSND gene cause Bartter syndrome type IV, often associated with sensorineural deafness and impaired chloride channel function in the kidney. However, ENSG00000265233 refers to a nonfunctional pseudogene variant, which does not encode a protein or possess biological activity, and is not considered a direct target for drug development[1][5][3]. In summary, ENSG00000265233 is not a valid drug target; it is a pseudogene, not an active molecular entity. For drug targeting or disease mechanism, refer to the protein "Barttin" encoded by the functional BSND gene[1][5][3].

Other names

Bartter syndrome with sensorineural deafness pseudogeneBSND pseudogene