Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3 Proteins (SLC35A3)

Human Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3 (SLC35A3) interaction partners

1. SLC35A3 missense homozygous mutation is associated with skeletal dysplasia.

2. Recessive mutations in SLC35A3 caused early onset epileptic encephalopathy with skeletal defects in two siblings in an Italian non-consanguineous family.

3. UDP-galactose (show B4GALT1 Proteins) (SLC35A2 (show SLC35A2 Proteins)) and UDP-N-acetylglucosamine (show MGAT4B Proteins) (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).

4. Identified deleterious mutations in SLC35A3 in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy.

5. The data further supports the hypothesis that UGT (show SLC35A2 Proteins) and NGT cooperate in the UDP-Gal (show B4GALT1 Proteins) delivery for glycosyltransferases located in the Golgi apparatus.

6. A mutation in the SLC35A3 gene is associated with vertebral malformations in cattle. A missense mutation likely effects signal transduction which relies on glycosylation.

7. SLC35A3 is an unlikely candidate for the pathogenesis of vertebral malformations because no mutation was found in this cohort study.

Cow (Bovine) Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3 (SLC35A3) interaction partners

1. A defective SLC35A3 gene is associated with severe axial skeletal deformities, symmetric arthrogryposis of the lower limb joints, craniofacial dysmorphism, and cardiac anomalies.