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MRXSB

Chr X

heterogeneous nuclear ribonucleoprotein H2

Also known as: FTP3, HNRPH', HNRPH2, MRXSB, NRPH2, hnRNPH'

NCBI Gene: 3188

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.

ResearchSummary from RefSeq, OMIM

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)