SLC9A6
Homo sapiens
Gene Name: solute carrier family 9 (sodium/hydrogen exchanger), member 6
Aliases: MRSA; NHE6; KIAA0267
Chromosome No: X
Chromosome Band: Xq26.3
Genetic Category: Syndromic--Functional-Rare single gene variant
Associated Syndrome(s): Christianson syndrome
Aliases: MRSA; NHE6; KIAA0267
Chromosome No: X
Chromosome Band: Xq26.3
Genetic Category: Syndromic--Functional-Rare single gene variant
Associated Syndrome(s): Christianson syndrome
Summary Statistics:
ASD Reports: 23
Recent Reports: 4
Annotated variants: 38
Associated CNVs: 10
Evidence score: 2
ASD Reports: 23
Recent Reports: 4
Annotated variants: 38
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene has been identified with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, studies have found SLC9A6 variants to be identified with X-linked mental retardation and Angelman-like phenotypes. As well, mutation in the SLC9A6 gene has been identified with autism (Garbern et al., 2010).
Molecular Function
This gene encodes a sodium-hydrogen exchanger that is a member of the solute carrier family 9. The encoded protein may be involved in regulating endosomal pH and volume.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
Christianson syndrome
ASD, ID, epilepsy, dystonia
Support
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Christianson syndrome
Support
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
ASD, ID
Support
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
ID, epilepsy/seizures
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ID
Microcephaly
Support
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
ID
Support
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
ASD
DD, ID, epilepsy/seizures
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
A Christianson syndrome-linked deletion mutation (287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
Christianson syndrome
Support
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Christianson syndrome
ID, epilepsy, ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
ASD, DD, epilepsy/seizures
Support
Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.
ASD
Support
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Microcephaly
DD, epilepsy/seizures
Support
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
DD, epilepsy/seizures
ASD
Support
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Epilepsy/seizures
DD/ID
Support
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
ASD
Developmental regression, epilepsy/seizures
Highly Cited
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
X-linked mental retardation syndrome
Recent Recommendation
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.
Recent Recommendation
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Christianson syndrome
ID, Epilepsy
Recent Recommendation
The Na? exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells.
Recent Recommendation
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
Angelman-like syndrome
