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Gene : CSGALNACT1 Homo sapiens

Name  ? chondroitin sulfate N-acetylgalactosaminyltransferase 1 Cytological Location  8p21.3
Brief Description  chondroitin sulfate N-acetylgalactosaminyltransferase 1
description  This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
  • synonyms:
  • CSGalNAcT-1,
  • CSGalNAcT-1,
  • NM_018371,
  • beta4GalNAcT,
  • ChGn,
  • ChGn-1,
  • chondroitin beta1,4 N-acetylgalactosaminyltransferase,
  • uc011kyo.2,
  • HGNC:24290,
  • CSGALNACT1,
  • AK002126,
  • glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase,
  • OTTHUMG00000130827,
  • ChGn,
  • FLJ11264
  • identifiers:
  • 55790,
  • ENSG00000147408,
  • CSGALNACT1

Genome feature

Region: gene ? Length: 353869  
Location: 8:19404161-19758029 reverse strand Cyto location: 8p21.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

16 Data Sets

12 Homologues

0 Located Features

90 Rna Seq Results