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SLC35A3 encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. De plus, nous expédions Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3 Protéines (4) et beaucoup plus de produits pour cette protéine.
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Recessive mutations in SLC35A3 caused early onset epileptic encephalopathy with skeletal defects in two siblings in an Italian non-consanguineous family.
UDP-galactose (Montrer B4GALT1 Anticorps) (SLC35A2 (Montrer SLC35A2 Anticorps)) and UDP-N-acetylglucosamine (Montrer MGAT4B Anticorps) (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).
Identified deleterious mutations in SLC35A3 in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy.
The data further supports the hypothesis that UGT (Montrer SLC35A2 Anticorps) and NGT cooperate in the UDP-Gal (Montrer B4GALT1 Anticorps) delivery for glycosyltransferases located in the Golgi apparatus.
A mutation in the SLC35A3 gene is associated with vertebral malformations in cattle. A missense mutation likely effects signal transduction which relies on glycosylation.
SLC35A3 is an unlikely candidate for the pathogenesis of vertebral malformations because no mutation was found in this cohort study.
A defective SLC35A3 gene is associated with severe axial skeletal deformities, symmetric arthrogryposis of the lower limb joints, craniofacial dysmorphism, and cardiac anomalies.
This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants.
, golgi UDP-GlcNAc transporter
, solute carrier family 35 member A3
, solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
, UDP N-acetylglucosamine transporter
, solute carrier family 35 member 3