GALT
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Full Name
Galactose-1-Phosphate Uridylyltransferase
Function
Plays an important role in galactose metabolism.
Biological Process
Galactose catabolic process Source: Reactome
Galactose catabolic process via UDP-galactose Source: GO_Central
Galactose metabolic process Source: UniProtKB
UDP-glucose catabolic process Source: Ensembl
UDP-glucose metabolic process Source: UniProtKB
Galactose catabolic process via UDP-galactose Source: GO_Central
Galactose metabolic process Source: UniProtKB
UDP-glucose catabolic process Source: Ensembl
UDP-glucose metabolic process Source: UniProtKB
Cellular Location
Cytosol; Golgi apparatus; Cytoplasm
Involvement in disease
Galactosemia 1 (GALAC1):
A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive.
A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive.
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Anti-GALT antibodies
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Target: GALT
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBLG1-514
Application*: E, WB
Target: GALT
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBLG1-512
Application*: E, P, WB
Target: GALT
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBLG1-2565
Application*: WB
Target: GALT
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYH-0235
Application*: E, P, WB
Target: GALT
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBLNG-183
Application*: E, WB, P
Target: GALT
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Rat
Clone: 4C11
Application*: E, P, WB
Target: GALT
Specificity: Human
Target: GALT
Specificity: Human
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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