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ARPP-21

From Wikipedia, the free encyclopedia
ARPP21
Identifiers
AliasesARPP21, ARPP-21, R3HDM3, RCS, TARPP, cAMP regulated phosphoprotein 21kDa, cAMP regulated phosphoprotein 21
External IDsOMIM: 605488; MGI: 107562; HomoloGene: 32306; GeneCards: ARPP21; OMA:ARPP21 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 3: 35.64 – 35.79 MbChr 9: 112.07 – 112.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cyclic AMP-regulated phosphoprotein, 21 kDa, also known as ARPP21, is a human gene.[5] Research published in March 2026 identified ARPP21 as one of the genes contributing to overall risk of developing amyotrophic lateral sclerosis (ALS).[6] A new high-impact ARPP21 variant was identified (p.P747L). Furthermore, the p.P563L mutation, previously established as the cause of ALS in seven unrelated families from Spain, was confirmed to be associated with a more aggressive disease course.[7]

References

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  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000172995 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032503 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "ARPP21 cAMP regulated phosphoprotein 21".
  6. https://www.nature.com/articles/s41588-026-02535-9
  7. https://jnnp.bmj.com/content/96/2/132
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Further reading

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