From NCBI Gene: Autism 16From UniProt: Autism 16 (AUTS16): 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. [MIM:613410] 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.

     From NCBI Gene: 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] From UniProt: 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.

The following transcription factors affect gene expression:

• Evi-1
• CUTL1
• CREB
• Pbx1a
• HNF-1
• Nkx5-1

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.

Molecular Function:

• Potassium:Proton Antiporter Activity
• Sodium:Proton Antiporter Activity

Biological Processes:

• Ion Transport
• Potassium Ion Transmembrane Transport
• Regulation Of Intracellular Ph
• Sodium Ion Import Across Plasma Membrane