EXT2 - Exostosin-2 - human protein (Medical)
 
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Protein
Gene
References

 
EXT2 »  Exostosin-2   [ EC 2.4.1.224EC 2.4.1.225 ]
 
Protein also known as:  Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase.
Gene name:  EXT2
Family name: Glycosyltransferase 47
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 79 3
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Hereditary multiple exostoses 2 (EXT2) [MIM:133701]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. The gene represented in this entry is involved in disease pathogenesis.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Multiple osteochondromas  321  
Potocki-Shaffer syndrome  52022  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Hereditary multiple exostoses  definition   [KW-0361]
Tumor suppressor  definition   [KW-0043]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2132
MIM: 133701
MIM: 601224
PharmGKB: PA27925
Polymorphism databases
DMDM: 3023739
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.