C-Jun-amino-terminal kinase-interacting protein 3 isoform X5 [Homo sap - Protein

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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy. [Am J Med Genet A. 2023]
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Kárteszi J, Ziegler A, Tihanyi M, Elmont B, Zhang Y, Patócs B, Molnár MJ, Méhes G, Wells K, Jakus R, et al. Am J Med Genet A. 2023 Sep; 191(9):2428-2432. Epub 2023 Jul 18.
JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton. [Commun Biol. 2022]
JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton.
Rafiq NM, Lyons LL, Gowrishankar S, De Camilli P, Ferguson SM. Commun Biol. 2022 Jan 10; 5(1):5. Epub 2022 Jan 10.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. [Ann Neurol. 2019]
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, et al. Ann Neurol. 2019 Jun; 85(6):927-933. Epub 2019 Apr 25.

RefSeq mRNA
See reference mRNA sequence for the MAPK8IP3 gene (XM_054379868.1).
RefSeq protein isoforms
See 20 reference sequence protein isoforms for the MAPK8IP3 gene.

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C-Jun-amino-terminal kinase-interacting protein 3 isoform X5 [Homo sapiens]
C-Jun-amino-terminal kinase-interacting protein 3 isoform X5 [Homo sapiens]
gi|2462548070|ref|XP_054235843.1|

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