EXTL3

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.

Full Name

Exostosin Like Glycosyltransferase 3

Research Area

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).

Biological Process

Heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
Positive regulation of cell growth Source: Ensembl
Protein glycosylation Source: InterPro

Cellular Location

Golgi apparatus; Endoplasmic reticulum membrane

Involvement in disease

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.

Topology

Cytoplasmic: 1-30
Helical: 31-51
Lumenal: 52-919