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MRXSPF
Chr XX-linkedtranscription factor binding to IGHM enhancer 3
Also known as: MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33
This gene encodes a basic helix-loop-helix transcription factor that binds E-box sequences and promotes expression of genes downstream of TGF-beta signaling. Mutations cause X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies. The condition follows X-linked inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRXSPF?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
MRXSPF · 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