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

Stable Identifier
R-HSA-5661086
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, late endosome lumen, late endosome membrane
ReviewStatus
5/5
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Defective SLC9A9 does not exchange Na+ for H+ across the late endosome membrane
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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
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Catalyst Activity

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

Physical Entity
SLC9A9 R423* [late endosome membrane] (Homo sapiens)
Activity
sodium:proton antiporter activity (GO:0015385)
Normal reaction
SLC9A9 exchanges Na+ for H+ across the late endosome membrane (Homo sapiens)
Functional status

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

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
autistic disorder DOID:12849 childhood autism, autism, autistic disorder of childhood onset, Kanner's syndrome, infantile autism
Authored
Jassal, B  (2015-01-08)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2015-01-08)
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