Defective SLC9A9 causes autism 16 (AUTS16)

Stable Identifier
R-HSA-5619052
Type
Pathway
Species
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 (Morrow et al. 2008, Kondapalli et al. 2014).

Literature References
PubMed ID Title Journal Year
25002837 An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease

Kondapalli, KC, Prasad, H, Rao, R

Front Cell Neurosci 2014
18621663 Identifying autism loci and genes by tracing recent shared ancestry

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

Science 2008
Participants
Participant Of
Disease
Name Identifier Synonyms
autistic disorder 12849 childhood autism, autism, autistic disorder of childhood onset, Kanner's syndrome, infantile autism
Cross References
BioModels Database
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