RecName: Full=Epsilon-sarcoglycan; Short=Epsilon-SG

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SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1. [J Biol Chem. 2023]
SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1.
Qiu T, Hou L, Zhao L, Wang X, Zhou Z, Yang C, Zhang H, Jiang D, Jiao B, Chen C. J Biol Chem. 2023 Nov; 299(11):105351. Epub 2023 Oct 12.
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. [Brain. 2023]
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Sperandeo A, Tamburini C, Noakes Z, de la Fuente DC, Keefe F, Petter O, Plumbly W, Clifton NE, Li M, Peall KJ. Brain. 2023 Apr 19; 146(4):1523-1541.
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. [Clin Genet. 2023]
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K, Horisawa S, Mashimo H, Fukuda M, Kumada S, Kawamata T, Taira T, Akagawa H. Clin Genet. 2023 Feb; 103(2):209-213. Epub 2022 Oct 7.

RefSeq genomic sequence
See the genomic reference sequence for the SGCE gene (NG_008893.3).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the SGCE gene.

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O43556 [Domain Mapping of Disease Mut...]
O43556
Domain Mapping of Disease Mutations
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