HNRNPA1

Chr 12AD

heterogeneous nuclear ribonucleoprotein A1

Also known as: ALS19, ALS20, HNRPA1, HNRPA1L3, IBMPFD3, MPD3, UP 1, hnRNP A1

NCBI Gene: 3178 ENSG00000135486 UniProt: P09651 OMIM: 164017

This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3MIM #615424

?Myopathy, distal, 3MIM #610099

Amyotrophic lateral sclerosis 20MIM #615426

Clinical highlights

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

102

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted

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