Disease-gene associations mined from literature

Literature associating EXTL3 and metaphyseal dysplasia

EXTL3 [ENSP00000220562]

Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

Synonyms:  EXTL3,  EXTL3p,  hEXTL3,  B4DG91,  E5RIV6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM