Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)

Stable Identifier
R-HSA-5619092
Type
Pathway
Species
Homo sapiens
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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. MRXSCH shows phenotypic overlap with Angelman syndrome (Gilfillan et al. 2008, Schroer et al. 2010, Kondapalli et al. 2014).

Literature References
PubMed ID Title Journal Year
20949524 Natural history of Christianson syndrome

Schroer, RJ, Holden, KR, Tarpey, PS, Matheus, MG, Griesemer, DA, Friez, MJ, Fan, JZ, Simensen, RJ, Strømme, P, Stevenson, RE, Stratton, MR, Schwartz, CE

Am. J. Med. Genet. A 2010
18342287 SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Gilfillan, GD, Selmer, KK, Roxrud, I, Smith, R, Kyllerman, M, Eiklid, K, Kroken, M, Mattingsdal, M, Egeland, T, Stenmark, H, Sjøholm, H, Server, A, Samuelsson, L, Christianson, A, Tarpey, P, Whibley, A, Stratton, MR, Futreal, PA, Teague, J, Edkins, S, Gecz, J, Turner, G, Raymond, FL, Schwartz, C, Stevenson, RE, Undlien, DE, Strømme, P

Am. J. Hum. Genet. 2008
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
Participants
Participant Of
Disease
Name Identifier Synonyms
syndromic intellectual disability 0050888
Cross References
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