SLC9A6 solute carrier family 9 member A6
Gene ID: 10479, updated on 3-Apr-2024Gene type: protein coding
Also known as: MRSA; NHE6; MRXSCH
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC9A6
- Go to Variation Viewer for SLC9A6 variants
Summary
This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Christianson syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq26.3
- Sequence:
- Chromosome: X; NC_000023.11 (135973837..136047269)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC9A6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC9A6 @ LOVD
- Variation ViewerRelated Variants
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