Reaction: Defective SLC9A6 does not exchange Na+ for H+ across the early endosome membrane
- in pathway: Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
SLC9A6 encodes the sodium/hydrogen exchanger 6 NHE6, a protein ubiquitously expressed but most abundant in mitochondria-rich tissues such as brain, skeletal muscle and heart. It is located on endosomal membranes and thought to play a housekeeping role in pH homeostasis in early endosomes. It mediates the electroneutral exchange of protons for Na+ and K+ across the early and recycling endosome membranes. Defects in SLC9A6 can cause mental retardation, X-linked, syndromic, Christianson type (MRXSCH; MIM:300243), a syndrome characterised by profound mental retardation, epilepsy, ataxia and microcephaly. Mutations in SLC9A6 causing MRXSCH include 255-256del, R468*, H171fs*60, 338-340del and E547* (Gilfillan et al. 2008, Roxrud et al. 2009, Garbern et al. 2010, Schuurs-Hoeijmakers et al. 2013).
Reaction - small molecule participants:
H+ [early endosome lumen]
Na+ [cytosol]
Reactome.org reaction link: R-HSA-5661039
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Reaction input - small molecules:
hydron
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5661039