Disease-gene associations mined from literature

Literature associating EXTL3 and X-linked spondyloepimetaphyseal dysplasia

EXTL3 [ENSP00000220562]

Exostosin-like 3; 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,  A0A384NPY9,  E5RIV6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM