rs762082642

This variant is located in the EXTL3 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Inborn genetic diseases

View on ClinVar →

About 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. [provided by RefSeq, Nov 2012]

View all EXTL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…