Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MQLPRWWEL GDPCAWTGQG RGTRRMSPAT TGTFLLTVYS IFSKVHSDRS VYPSAGVLFV HVLEREYFKG EFPPYPKPGE ISNDPITFNT NLMGYPDRPG WLRYIQRTPY SDGVLYGSPT AENVGKPTII EITAYNRRTF ETARHNLIIN IMSAEDFPLP YQAEFFIKNM NVEEMLASEV LGDFLGAVKN VWQPERLNAI NITSALDRGG RVPLPINDLK EGVYVMVGAD VPFSSCLREV ENPQNQLRCS QEMEPVITCD KKFRTQFYID WCKISLVDKT KQVSTYQEVI RGEGILPDGG E (1-300 aa encoded by BC021709)
This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: dystonia 11, myoclonic; Epsilon sarcoglycan; Epsilon SG; Epsilon-sarcoglycan; epsilon-sarcoglycan {ECO:0000312|EMBL:AAO37579.1}; Epsilon-SG; epsilon-SG {ECO:0000250|UniProtKB:O43556}; sarcoglycan; sarcoglycan, epsilon; sgce {ECO:0000312|EMBL:AAO37579.1, ECO:0000312|RGD:1303201}
Gene Aliases: DYT11; e-SG; ESG; SGCE; UNQ433/PRO840
UniProt ID: (Human) O43556, (Mouse) O70258, (Rat) Q6YAT4
Entrez Gene ID: (Human) 8910, (Mouse) 20392, (Rat) 432360
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