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MRXSCH
Chr XX-linkedsolute carrier family 9 member A6
Also known as: MRSA, MRXSCH, NDPACX, NHE6
This gene encodes a sodium-hydrogen exchanger that localizes to early and recycling endosomes and regulates endosomal pH and volume. Mutations cause X-linked syndromic intellectual developmental disorder, Christianson type, which is characterized by intellectual disability along with additional syndromic features. The condition follows X-linked inheritance, primarily affecting males.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRXSCH?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MRXSCH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools