Metabolism Antibodies 2
Anti-GALE Antibody (CAB6595)
- SKU:
- CAB6595
- 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-GALE Antibody |
Antibody SKU: | CAB6595 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 129-348 of human GALE (NP_001121093.1). |
Application: | WB IHC IF |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:10 - 1:100 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | SW480, SKOV3, HepG2, U-251MG, HeLa, Mouse liver, Rat liver |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 129-348 of human GALE (NP_001121093.1). |
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: | FSSS ATVY GNPQ YLPL DEAH PTGG CTNP YGKS KFFI EEMI RDLC QADK TWNA VLLR YFNP TGAH ASGC IGED PQGI PNNL MPYV SQVA IGRR EALN VFGN DYDT EDGT GVRD YIHV VDLA KGHI AALR KLKE QCGC RIYN LGTG TGYS VLQM VQAM EKAS GKKI PYKV VARR EGDV AACY ANPS LAQE ELGW TAAL GLDR MCED LWRW QKQN PSGF GTQA |
Gene ID: | 2582 |
Uniprot: | Q14376 |
Cellular Location: | |
Calculated MW: | 30kDa/38kDa |
Observed MW: | 38kDa |
Synonyms: | GALE, SDR1E1 |
Background: | This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. |
UniProt Protein Function: | GALE: Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG); also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. Belongs to the sugar epimerase family. |
UniProt Protein Details: | Protein type:Carbohydrate Metabolism - amino sugar and nucleotide sugar; Isomerase; EC 5.1.3.2; Carbohydrate Metabolism - galactose; EC 5.1.3.7 Chromosomal Location of Human Ortholog: 1p36-p35 Cellular Component: cytosol Molecular Function:UDP-N-acetylglucosamine 4-epimerase activity; protein homodimerization activity; UDP-glucose 4-epimerase activity; coenzyme binding Biological Process: galactose catabolic process; carbohydrate metabolic process; pathogenesis Disease: Galactose Epimerase Deficiency |
NCBI Summary: | This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q14376 |
NCBI GenInfo Identifier: | 68056598 |
NCBI Gene ID: | 2582 |
NCBI Accession: | Q14376.2 |
UniProt Secondary Accession: | Q14376,Q38G75, Q86W41, Q9BVE3, Q9UJB4, A0A024RAH5, B3KQ39 |
UniProt Related Accession: | Q14376 |
Molecular Weight: | 348 |
NCBI Full Name: | UDP-glucose 4-epimerase |
NCBI Synonym Full Names: | UDP-galactose-4-epimerase |
NCBI Official Symbol: | GALE |
NCBI Official Synonym Symbols: | SDR1E1 |
NCBI Protein Information: | UDP-glucose 4-epimerase; galactowaldenase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-galactose 4-epimerase; UDP galactose-4'-epimerase; galactose-4-epimerase, UDP-; UDP-N-acetylglucosamine 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; short chain dehydrogenase/reductase family 1E, member 1 |
UniProt Protein Name: | UDP-glucose 4-epimerase |
UniProt Synonym Protein Names: | GalactowaldenaseUDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-galactose 4-epimerase |
Protein Family: | Galectin |
UniProt Gene Name: | GALE |
UniProt Entry Name: | GALE_HUMAN |
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