Metabolism Antibodies 1
Anti-GYG1 Antibody (CAB10218)
- SKU:
- CAB10218
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-GYG1 Antibody |
Antibody SKU: | CAB10218 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 234-333 of human GYG1 (NP_001171649.1). |
Application: | WB |
Recommended Dilution: | WB 1:200 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | MCF7, SW480, Mouse skeletal muscle, Mouse kidney, Mouse liver, Rat heart |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 234-333 of human GYG1 (NP_001171649.1). |
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: | EAHD PNMT HPEF LILW WNIF TTNV LPLL QQFG LVKD TCSY VNVE DVSG AISH LSLG EIPA MAQP FVSS EERK ERWE QGQA DYMG ADSF DNIK RKLD TYLQ |
Gene ID: | 2992 |
Uniprot: | P46976 |
Cellular Location: | |
Calculated MW: | 31kDa/37kDa/39kDa |
Observed MW: | 39kDa |
Synonyms: | GYG1, GSD15, GYG |
Background: | This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified. |
UniProt Protein Function: | glycogenin: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. Defects in GYG1 are the cause of glycogen storage disease type 15 (GSD15). It is a metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:EC 2.4.1.186; Transferase Chromosomal Location of Human Ortholog: 3q24 Cellular Component: cytosol; extracellular region; lysosomal lumen; membrane Molecular Function:glycogenin glucosyltransferase activity; protein binding Biological Process: glycogen biosynthetic process; glycogen catabolic process; neutrophil degranulation |
NCBI Summary: | This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] |
UniProt Code: | P46976 |
NCBI GenInfo Identifier: | 13432151 |
NCBI Gene ID: | 2992 |
NCBI Accession: | P46976.4 |
UniProt Secondary Accession: | P46976,Q6FHZ1, Q9UNV0, D3DNH0, D3DNH1, D3DNH2, |
UniProt Related Accession: | P46976 |
Molecular Weight: | 39kDa |
NCBI Full Name: | Glycogenin-1 |
NCBI Synonym Full Names: | glycogenin 1 |
NCBI Official Symbol: | GYG1 |
NCBI Official Synonym Symbols: | GYG; GSD15 |
NCBI Protein Information: | glycogenin-1 |
UniProt Protein Name: | Glycogenin-1 |
UniProt Gene Name: | GYG1 |
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