Human EXT1 (Exostoses 1) ELISA Kit

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935106861
info@markelab.com
name
Human EXT1 (Exostoses 1) ELISA Kit
category
ELISA Kits
provider
FineTest
reference
EH3023
tested applications
ELISA

Documents del producto

Instrucciones
Descargar
Data sheet

Product specifications

Category
ELISA Kits
Reactivity
Human
Detection Method
Colorimetric
Assay Data
4 hours
Assay Type
Sandwich ELISA, Double Antibody
Test Range
0.781-50ng/ml
Sensitivity
0.469ng/ml
Size 1
96T
Tested Applications
ELISA
Sample Type
Serum, Plasma, Cell Culture Supernatant, cell or tissue lysate, Other liquid samples
Availability
Shipped within 10-14 working days.
Storage
2-8 °C for 12 months
UniProt ID
Q16394
Alias
Exostosin-1, Exostosin glycosyltransferase 1, Heparan sulfate co-polymerase subunit EXT1, Multiple exostoses protein 1, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, EXT1
Background
Elisa kits for EXT1
Status
RUO

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EXT1 Antibody is a Rabbit Polyclonal antibody against EXT1. Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumors (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas. Linkage analyses have identified three different genes for EXT, EXT1 on 8q24.1, EXT2 on 11p11-13 and EXT3 on 19p, a family of tumor suppressor genes. Most EXT cases have been attributed to missense or frameshift mutations, which lead to loss of function of the EXT genes. EXT1 is an ER-resident type II transmembrane glycoprotein and a heparan sulphate polymerase with both D-glucuronyl and N-acetyl-D-glucosaminoglycan transferase activities. Expression of EXT1 in cells results in the alteration of the synthesis and display of cell surface heparan sulfate glycosaminoglycans. EXT1 mutations have been identified in multiple types of human tumors.

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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].

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