ARPP-21
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000172995 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032503 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "ARPP21 cAMP regulated phosphoprotein 21".
- ^ https://www.nature.com/articles/s41588-026-02535-9
- ^ https://jnnp.bmj.com/content/96/2/132
External links
- Human ARPP21 genome location and ARPP21 gene details page in the UCSC Genome Browser.
Further reading
- Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–2772. doi:10.1021/ac035352d. PMID 15144186.
- Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–9548. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
- Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Brené S, Lindefors N, Ehrlich M, Taubes T, Horiuchi A, Kopp J, Hall H, Sedvall G, Greengard P, Persson H (1994). "Expression of mRNAs encoding ARPP-16/19, ARPP-21, and DARPP-32 in human brain tissue". J. Neurosci. 14 (3 Pt 1): 985–98. doi:10.1523/JNEUROSCI.14-03-00985.1994. PMC 6577526. PMID 8120638.
- Rakhilin SV, Olson PA, Nishi A, Starkova NN, Fienberg AA, Nairn AC, Surmeier DJ, Greengard P (2004). "A network of control mediated by regulator of calcium/calmodulin-dependent signaling". Science. 306 (5696): 698–701. Bibcode:2004Sci...306..698R. doi:10.1126/science.1099961. PMID 15499021. S2CID 12127149.
- Caporaso GL, Bibb JA, Snyder GL, Valle C, Rakhilin S, Fienberg AA, Hemmings HC, Nairn AC, Greengard P (2000). "Drugs of abuse modulate the phosphorylation of ARPP-21, a cyclic AMP-regulated phosphoprotein enriched in the basal ganglia". Neuropharmacology. 39 (9): 1637–44. doi:10.1016/s0028-3908(99)00230-0. PMID 10854908. S2CID 11927459.
- Nair AG, Bhalla US, Hellgren Kotaleski J (2016). "Role of DARPP-32 and ARPP-21 in the Emergence of Temporal Constraints on Striatal Calcium and Dopamine Integration". PLOS Comput Biol. 12 (9) e1005080. Bibcode:2016PLSCB..12E5080N. doi:10.1371/journal.pcbi.1005080. PMC 5008828. PMID 27584878.