SLC9A9

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.

solute carrier family 9 (sodium/hydrogen exchanger), member 9

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.

Biological Process ion transportTAS:Reactome
Biological Process potassium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of intracellular pHManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sodium ion import across plasma membraneManual Assertion Based On ExperimentIBA:GO_Central

Late endosome membrane

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 intellectual disability. AUTS16 can be associated with epilepsy.