Entity Details

Primary name B4GALT7
Entity type gene
Source Source Link

Details

PrimaryID11285
RefseqGeneNG_015977
SymbolB4GALT7
Namebeta-1,4-galactosyltransferase 7
Chromosome5
Location5q35.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-02
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsB4GT7_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0005794 Golgi apparatus
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006029 proteoglycan metabolic process
GO:0006464 cellular protein modification process
GO:0006487 protein N-linked glycosylation
GO:0008378 galactosyltransferase activity
GO:0016021 integral component of membrane
GO:0030145 manganese ion binding
GO:0030166 proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0032580 Golgi cisterna membrane
GO:0046525 xylosylprotein 4-beta-galactosyltransferase activity
GO:0048147 negative regulation of fibroblast proliferation
GO:0070085 glycosylation
GO:0097435 supramolecular fiber organization

Diseases

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Disease IDSourceNameDescription
130070 OMIMEhlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. The disease is caused by variants affecting the gene represented in this entry.