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MRXSB
Chr XXLDheterogeneous nuclear ribonucleoprotein H2
Also known as: FTP3, HNRPH', HNRPH2, MRXSB, NRPH2, hnRNPH'
The protein encoded by this gene is a heterogeneous nuclear ribonucleoprotein (hnRNP) that binds RNA through three quasi-RRM domains and influences pre-mRNA processing, mRNA metabolism, and transport between the nucleus and cytoplasm. Mutations cause X-linked syndromic intellectual developmental disorder, Bain type, which follows an X-linked dominant inheritance pattern. This represents a syndromic form of intellectual disability affecting both males and females due to the dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRXSB?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
MRXSB · 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