EXTL3

Description

The EXTL3 (exostosin like glycosyltransferase 3) is a protein-coding gene located on chromosome 8.

Exostosin-like 3 is a protein that in humans is encoded by the EXTL3 gene.

EXTL3 is a glycosyltransferase that plays a critical role in the biosynthesis of heparan sulfate (HS). It initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue to the tetrasaccharide linker, and may also transfer alpha-GlcNAc residues during HS elongation. EXTL3 lacks glucuronyl transferase II (GlcAT-II) activity. This protein is important for both skeletal development and hematopoiesis through the formation of HS proteoglycans (HSPGs). Through the synthesis of HS, EXTL3 regulates postnatal pancreatic islet maturation and insulin secretion.

EXTL3 is also known as BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR.

Associated Diseases

• Immunoskeletal dysplasia with neurodevelopmental abnormalitie
• Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome