SL9A3 Polyclonal Antibody, 20ul Cell Culture & Maintenance Mutations in this gene may

Mutations in this gene may underlie hereditary disorders of balance and hearing

Contains 2 CBS domains

Mutations in this gene cause Joubert syndrome

As the sequence environment of the 2 potential ATG initiator codons is the same for the other altrnatively spliced isoforms| alternative initiation of translation could also occur on these transcripts

SL9A3 Polyclonal Antibody, 20ul Cell Culture & Maintenance Mutations in this gene mayThe protein encoded by this gene is an epithelial brush border Na H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22.