Entity Details

Primary name CSGALNACT1
Entity type gene
Source Source Link

Details

PrimaryID55790
RefseqGene
SymbolCSGALNACT1
Namechondroitin sulfate N-acetylgalactosaminyltransferase 1
Chromosome8
Location8p21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCGAT1_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001958 endochondral ossification
GO:0008376 acetylgalactosaminyltransferase activity
GO:0008955 peptidoglycan glycosyltransferase activity
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0015020 glucuronosyltransferase activity
GO:0019276 UDP-N-acetylgalactosamine metabolic process
GO:0030166 proteoglycan biosynthetic process
GO:0030173 integral component of Golgi membrane
GO:0030198 extracellular matrix organization
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030210 heparin biosynthetic process
GO:0032580 Golgi cisterna membrane
GO:0046398 UDP-glucuronate metabolic process
GO:0046872 metal ion binding
GO:0047237 glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process
GO:0050651 dermatan sulfate proteoglycan biosynthetic process
GO:0050653 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0051216 cartilage development

Diseases

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Disease IDSourceNameDescription
618870 OMIMSkeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA)An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry.