B4GALNT1
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Full Name
Beta-1,4-N-Acetyl-Galactosaminyltransferase 1
Function
Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.
Biological Process
Carbohydrate metabolic process Source: ProtInc
Ganglioside biosynthetic process Source: UniProtKB
Glycosphingolipid metabolic process Source: Reactome
Lipid glycosylation Source: InterPro
Lipid storage Source: Ensembl
Spermatogenesis Source: Ensembl
Ganglioside biosynthetic process Source: UniProtKB
Glycosphingolipid metabolic process Source: Reactome
Lipid glycosylation Source: InterPro
Lipid storage Source: Ensembl
Spermatogenesis Source: Ensembl
Cellular Location
Golgi apparatus membrane
Involvement in disease
Spastic paraplegia 26, autosomal recessive (SPG26): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive.
Topology
Cytoplasmic: 1-7 aa
Helical: 8-25 aa
Lumenal: 26-533 aa
Helical: 8-25 aa
Lumenal: 26-533 aa
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Anti-B4GALNT1 antibodies
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Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Rat
Clone: 5F9
Application*: WB, E
Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: ME361
Application*: FC, IH
Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1024912
Application*: IH
Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 14G2a
Application*: FC, IF, P
Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBLG1-004
Application*: IC
Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBYY-0088
Application*: E, WB, IF, IP
Target: B4GALNT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBT4705
Application*: WB, IH, F
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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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