Defective SLC9A9 does not exchange Na+ for H+ across the late endosome membrane

Stable Identifier
Reaction [transition]
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
18621663 Identifying autism loci and genes by tracing recent shared ancestry

Yao, H, Greenberg, ME, Hill, RS, Joseph, RM, Yoo, SY, Lin, Y, Greenblatt, R, Mukaddes, NM, Gascon, G, Ware, J, Flavell, SW, Ferland, RJ, Ertelt, JA, Hashmi, A, Balkhy, S, Apse, KA, Bodell, A, Gleason, D, Partlow, JN, Markianos, K, Kim, TK, Morrow, EM, Al-Saad, S, Barry, B, Walsh, CA

Science 2008
Catalyst Activity

sodium:proton antiporter activity of SLC9A9 R423* [late endosome membrane]

Normal reaction
Functional status

Loss of function of SLC9A9 R423* [late endosome membrane]

Name Identifier Synonyms
autistic disorder DOID:12849 childhood autism, autism, autistic disorder of childhood onset, Kanner's syndrome, infantile autism
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