HNRNPDL

Chr 4

heterogeneous nuclear ribonucleoprotein D like

Also known as: HNRNP, HNRPDL, JKTBP, JKTBP2, LGMD1G, LGMDD3, laAUF1

NCBI Gene: 9987 ENSG00000152795 UniProt: O14979

The protein binds RNA through two RRM domains and regulates pre-mRNA processing and mRNA metabolism in the nucleus. Mutations cause limb-girdle muscular dystrophy type 3 with autosomal dominant inheritance. The pathogenic mechanism involves disrupted RNA processing that leads to progressive muscle weakness and atrophy primarily affecting the shoulder and pelvic girdle muscles.

ResearchSummary from RefSeq, OMIM, UniProt

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 two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal dominant 3

Clinical highlights

Gene-disease validity (ClinGen)

muscular dystrophy, limb-girdle, autosomal dominant · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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