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HNRNPA1 heterogeneous nuclear ribonucleoprotein A1

Also known as: UP 1; ALS19; ALS20; HNRPA1; IBMPFD3; HNRPA1L3; hnRNP A1; hnRNP-A1

Summary

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]

Genomic context

Location:
12q13.13
Sequence:
Chromosome: 12; NC_000012.12 (54280690..54287088)
Total number of exons:
13

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