Reaction: Defective SLC9A9 does not exchange Na+ for H+ across the late endosome membrane
- in pathway: Defective SLC9A9 causes autism 16 (AUTS16)
SLC9A9 encodes the sodium/hydrogen exchanger 9 NHE9 which is expressed ubiquitously and thought to play a housekeeping role in pH homeostasis in the late endosome membrane. A defect in SLC9A9 can contribute to susceptibility to autism 16 (AUTS16; MIM:613410). Autism, the prototypic pervasive developmental disorder (PDD), is a complex, multifactorial disorder characterised by reciprocal social interaction and communication impairment, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by age 3. The mutation R423* can predispose an individual to AUTS16 (Morrow et al. 2008).
Reaction - small molecule participants:
H+ [late endosome lumen]
Na+ [cytosol]
Reactome.org reaction link: R-HSA-5661086
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Reaction input - small molecules:
hydron
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5661086