Recombinant human Exostosin-like 3 protein

Uniprot Id

O43909

Target Species

Human

Target Name

EXTL3

Target Full Name

Exostosin-like 3

Target Function

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.

Target Involvement

Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus.

Target Protein Families

Glycosyltransferase 47 family

Target Tissue Specificity

Ubiquitous. Expressed in keratinocytes.

Target Research Area

Others

Target Synonyms

botv; DKFZp686C2342; Exostoses (multiple)-like 3; Exostoses-like 3; Exostosin-like 3; EXT-related protein 1; EXTL1L; EXTL3; EXTL3_HUMAN; EXTR1; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferas; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Hereditary multiple exostoses gene isolog; KIAA0519; Multiple exostosis-like protein 3; Putative tumor suppressor protein EXTL3; REG; Reg receptor; REGR; RPR

Target Background

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.