SLC35A3

Description

The SLC35A3 (solute carrier family 35 member A3) is a protein-coding gene located on chromosome 1.

SLC35A3 transports UDP-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the Golgi lumen, acting as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP. This transport provides UDP-GlcNAc as a substrate for Golgi-resident glycosyltransferases, which synthesize complex N-glycans and keratan sulfate. However, SLC35A3's exact role remains unclear. It might function within a multiprotein complex, enhancing catalytic efficiency rather than operating independently as a solitary transporter.

SLC35A3 is also known as AMRS.

Associated Diseases

• Arthrogryposis, mental retardation, and seizures
• Autism spectrum disorder-epilepsy-arthrogryposis syndrome