EXTL3 gene

exostosin like glycosyltransferase 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]

From UniProt:

Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

From NCBI Gene:

  • Immunoskeletal dysplasia with neurodevelopmental abnormalities

Cytogenetic Location: 8p21.1, which is the short (p) arm of chromosome 8 at position 21.1

Molecular Location: base pairs 28,701,473 to 28,753,690 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p21.1, which is the short (p) arm of chromosome 8 at position 21.1
  • BOTV
  • EXTL1L
  • EXTR1
  • ISDNA
  • REGR
  • RPR