Cell Biology Antibodies 9
Anti-SGCE Antibody (CAB5330)
- SKU:
- CAB5330
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-SGCE Antibody |
Antibody SKU: | CAB5330 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-317 of human SGCE (NP_003910.1). |
Application: | WB IHC IF |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200 |
Reactivity: | Human, Mouse |
Positive Samples: | SW620, A-549 |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-317 of human SGCE (NP_003910.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MQLP RWWE LGDP CAWT GQGR GTRR MSPA TTGT FLLT VYSI FSKV HSDR NVYP SAGV LFVH VLER EYFK GEFP PYPK PGEI SNDP ITFN TNLM GYPD RPGW LRYI QRTP YSDG VLYG SPTA ENVG KPTI IEIT AYNR RTFE TARH NLII NIMS AEDF PLPY QAEF FIKN MNVE EMLA SEVL GDFL GAVK NVWQ PERL NAIN ITSA LDRG GRVP LPIN DLKE GVYV MVGA DVPF SSCL REVE NPQN QLRC SQEM EPVI TCDK KFRT QFYI DWCK ISLV DKTK QVST YQEV IRGE GILP DGGE YKPP SDSL KSRD YYTD F |
Gene ID: | 8910 |
Uniprot: | O43556 |
Cellular Location: | Cell membrane, Cell projection, Cytoplasm, Golgi apparatus, Single-pass membrane protein, cytoskeleton, dendrite, sarcolemma |
Calculated MW: | 49kDa/51kDa/52kDa |
Observed MW: | 55kDa |
Synonyms: | SGCE, DYT11, ESG, epsilon-SG |
Background: | 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. A pseudogene associated with this gene is located on chromosome 2. |
UniProt Protein Function: | SGCE: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Defects in SGCE are a cause of dystonia type 11 (DYT11); also known as myoclonic dystonia or alcohol- responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. Belongs to the sarcoglycan alpha/epsilon family. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Cell adhesion Chromosomal Location of Human Ortholog: 7q21.3 Cellular Component: dystrophin-associated glycoprotein complex; Golgi apparatus; integral to plasma membrane; plasma membrane Biological Process: cell-matrix adhesion; muscle development; muscle system process Disease: Myoclonic Dystonia |
NCBI Summary: | 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.[provided by RefSeq, Oct 2010] |
UniProt Code: | O43556 |
NCBI GenInfo Identifier: | 251757514 |
NCBI Gene ID: | 8910 |
NCBI Accession: | O43556.6 |
UniProt Secondary Accession: | O43556,Q6L8P0, Q75MH8, Q8NFG8, Q8WW28, B2R8N2, D6W5Q8 E9PF60, G5E9K6, |
UniProt Related Accession: | O43556 |
Molecular Weight: | 52,525 Da |
NCBI Full Name: | Epsilon-sarcoglycan |
NCBI Synonym Full Names: | sarcoglycan epsilon |
NCBI Official Symbol: | SGCE |
NCBI Official Synonym Symbols: | ESG; DYT11 |
NCBI Protein Information: | epsilon-sarcoglycan |
UniProt Protein Name: | Epsilon-sarcoglycan |
Protein Family: | Protein |
UniProt Gene Name: | SGCE |
UniProt Entry Name: | SGCE_HUMAN |
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