SLC9A9 Antibody – Mouse Monoclonal

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]

NHE9: 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 maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell. A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9. Defects in SLC9A9 are a cause of susceptibility to autism type 16 (AUTS16). Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTS16 can be associated with epilepsy. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.

Protein type: Transporter; Transporter, SLC family; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 3q24

Cellular Component: recycling endosome; late endosome membrane; integral to membrane

Molecular Function: protein binding; sodium:hydrogen antiporter activity

Biological Process: regulation of pH; ion transport; transmembrane transport

Disease: Autism, Susceptibility To, 16