(Q50289202)

English

Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan

An instance of the biological reaction in Homo sapiens with Reactome ID (R-HSA-3656257)

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1 reference

8 July 2022

Defective EXT1 causes exostoses 1, TRPS2 and CHDS

1 reference

8 July 2022

1 reference

8 July 2022

https://identifiers.org/reactome:R-HSA-3656257

1 reference

8 July 2022

Heparan(2)-PGs [Golgi lumen]

1

1 reference

8 July 2022

EXT1 mutants:EXT2 [Golgi membrane]

1

1 reference

8 July 2022

UDP-alpha-D-glucuronate(3-)

1

1 reference

8 July 2022

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity

1 reference

8 July 2022

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature

1 reference

8 July 2022

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies

1 reference

8 July 2022

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

1 reference

8 July 2022

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

1 reference

8 July 2022

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

1 reference

8 July 2022

Identifiers

1 reference

8 July 2022

(Q50289202)

Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan

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