SLC9A9, NHE9, Nbla00118, Sodium/hydrogen exchanger 9, Na(+)/H(+) exchanger 9, NHE-9, Solute carrier family 9 member 9
This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012],disease:A chromosomal aberration involving SLC9A9 may be a cause of early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability (ADHD) [MIM:143465]. Inversion inv(3)(p14:q21). The inversion disrupts SLC9A9 and DOCK3.,function:May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintainance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell.,similarity:Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.,tissue specificity:Ubiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord.,
