Exostosin 1 [exostosin 1]

topical
Terms

EXT1

 

Exostosin-1
EXT1 Heparan Sulfate Copolymerase
Heparan Sulfate Copolymerase EXT1
Multiple Exostoses Protein 1

Persistent link   https://www.medvik.cz/link/D000099058
Definition

A bifunctional glycosyltransferase involved in transferring GLUCURONIC ACID and N-ACETYLGLUCOSAMINE in the elongation of HEPARAN SULFATE chains. Mutations in the gene EXT1, coding for this protein (as well as mutations in other genes), are responsible for defects in heparan sulfate synthesis resulting in HEREDITARY MULTIPLE EXOSTOSES. Exostosin-1, along with EXOSTOSIN-2, is a component of heparan sulfate polymerase.

DUI
D000099058 MeSH Browser
CUI
M0274532
History note
2025 (1997)
Public note
2025; EXOSTOSIN-1 was indexed under N-ACETYLGLUCOSAMINYLTRANSFERASES1997-2024

Allowable subheadings

AD
administration & dosage
AE
adverse effects
AN
analysis
AI
antagonists & inhibitors
BI
biosynthesis
BL
blood
CF
cerebrospinal fluid
CS
chemical synthesis
CH
chemistry
CL
classification
DF
deficiency
DE
drug effects
EC
economics
GE
genetics
HI
history
IM
immunology
IP
isolation & purification
ME
metabolism
PK
pharmacokinetics
PD
pharmacology
PH
physiology
PO
poisoning
RE
radiation effects
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine

D Chemicals and Drugs
D08 Enzymes and Coenzymes 7
D08.811 Enzymes 1 557
D08.811.913 Transferases 72
D08.811.913.400 Glycosyltransferases 50
D08.811.913.400.001 Exostosin Glycosyltransferase Family
D08.811.913.400.001.250 Exostosin 1
D08.811.913.400.001.300 Exostosin 2
D08.811.913.400.100 N-Acetylhexosaminyltransferases
D08.811.913.400.100.250 N-Acetylglucosaminyltransferases 10
D08.811.913.400.100.250.250 Exostosin 1
D08.811.913.400.100.250.300 Exostosin 2

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