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Immunogen sequence: MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE YKPPSDSLKS RDYYTDF; Positive Samples: SW620, A-549; Cellular Location: Cell membrane, Cell projection, Cytoplasm, Golgi apparatus, Single-pass membrane protein, cytoskeleton, dendrite, sarcolemma
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: dystonia 11, myoclonic; Epsilon sarcoglycan; Epsilon SG; Epsilon-sarcoglycan; Epsilon-SG; sarcoglycan; sarcoglycan, epsilon
基因别名: DYT11; e-SG; ESG; SGCE; UNQ433/PRO840
UniProt ID: (Human) O43556, (Mouse) O70258
Entrez Gene ID: (Human) 8910, (Mouse) 20392