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Gene : EXT1 Homo sapiens

Name  ? exostosin glycosyltransferase 1 Cytological Location  8q24.11
Brief Description  exostosin glycosyltransferase 1
description  This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
  • synonyms:
  • LGCR,
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase,
  • NM_000127,
  • OTTHUMG00000059718,
  • TRPS2,
  • exostosin 1,
  • ttv,
  • LGS,
  • LGCR,
  • EXT1,
  • uc003yok.3,
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase,
  • EXT,
  • Langer-Giedion syndrome chromosome region,
  • TTV,
  • S79639,
  • HGNC:3512,
  • exostoses (multiple) 1,
  • LGS
  • identifiers:
  • 2131,
  • ENSG00000182197,
  • EXT1

Genome feature

Region: gene ? Length: 312457  
Location: 8:117799363-118111819 reverse strand Cyto location: 8q24.11


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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

199 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results