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:

Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489).

From NCBI Gene:

  • Immunoskeletal dysplasia with neurodevelopmental abnormalities

From UniProt:

Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA): An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. [MIM:617425]

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