EXT1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, WB
Recommend Dilution	WB 1:500 - 1:2000;IF 1:10 - 1:100
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant protein of human EXT1
Formulation	Store at -20C or -80C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	86 kDa
Gene Name	exostosin glycosyltransferase 1
Database Link	NP_000118 Entrez Gene 14042 MouseEntrez Gene 299907 RatEntrez Gene 2131 Human UniProt ID Q16394
Background	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.
Synonyms	EXT; LGCR; LGS; TRPS2; TTV
Reference Data
Protein Families	Druggable Genome, Transmembrane
Protein Pathways	Heparan sulfate biosynthesis, Metabolic pathways

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