Human EXT1 / Exostoses 1 ELISA Kit

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SKU:
HUFI02434
Product Type:
ELISA Kit
Size:
96 Assays
Uniprot:
Q16394
Sensitivity:
0.469ng/ml
Range:
0.781-50ng/ml
ELISA Type:
Sandwich
Synonyms:
EXT1, LGCR, TRPS2, TTV, EC 2.4.1.224, EC 2.4.1.225, exostoses, multiple 1, exostosin 1, exostosin-1, EXT, Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Glucuronosyl-N-acetylglucosaminyl-proteoglycan, N-acetyl
Reactivity:
Human
Research Area:
Cell Biology

Description

Human EXT1 / Exostoses 1 ELISA

EXT1 (Exostosin Glycosyltransferase 1) is an enzyme that catalyzes the transfer of a glycosyl group from UDP-glucose to the hydroxyl group of Tyr-Xaa in the exostosin protein. Mutations in the EXT1 gene cause type I X-linked recessive osteochondrodysplasia, also known as Donnai-Barrow syndrome. Diseases associated with EXT1 include Exostoses, Multiple, Type I and Chondrosarcoma. Pathways associated Glycosaminoglycan metabolism and Mesodermal Commitment Pathway.

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