Entity Details

Primary name B4GALNT1
Entity type gene
Source Source Link

Details

PrimaryID2583
RefseqGeneNG_033849
SymbolB4GALNT1
Namebeta-1,4-N-acetyl-galactosaminyltransferase 1
Chromosome12
Location12q13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsB4GN1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000139 Golgi membrane
GO:0001574 ganglioside biosynthetic process
GO:0003947 (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005975 carbohydrate metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0007283 spermatogenesis
GO:0008376 acetylgalactosaminyltransferase activity
GO:0016020 membrane
GO:0019915 lipid storage
GO:0030173 integral component of Golgi membrane
GO:0030259 lipid glycosylation

Diseases

Show/Hide Table
Disease IDSourceNameDescription
609195 OMIMSpastic 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
B4GALNT1B4GALNT1BioGRID, HPRD11018043 details
B4GALNT1TMED6BioGRID, IntAct28514442 details
B4GALNT1PCDH20BioGRID, IntAct28514442 details
B4GALNT1ST8SIA4BioGRID, IntAct28514442 details
B4GALNT1TCTN2BioGRID, IntAct28514442 details
B4GALNT1ITM2BBioGRID, IntAct26186194 28514442 details
B4GALNT1TRIM25BioGRID29117863 details