Gene: SLC35A2

Alternate names for this Gene: CDG2M|CDGX|UDP-Gal-Tr|UGALT|UGAT|UGT|UGT1|UGT2|UGTL

Gene Summary: This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.23

Description of this Gene: solute carrier family 35 member A2

Type of Gene: protein-coding

rs1557043622 in SLC35A2 gene and Acid reflux PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Anteriorly placed anus PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Blue sclera PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Byzanthine arch palate PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Cerebellar vermis atrophy PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Cerebral white matter atrophy PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Congenital overgrowth of lower limb PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Constipation PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Cortical visual impairment PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Decreased CSF homovanillic acid PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Decreased peristalsis PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557042808 in SLC35A2 gene and Dysmorphic features PMID 25778940 2015 A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

PMID 25877686 2015 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

PMID 24115232 2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 8889805 1996 Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 23561849 2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

PMID 9010752 1996 Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

rs1557043622 in SLC35A2 gene and Esotropia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Gastrointestinal dysmotility PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Global developmental delay PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hematocrit increased PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hyperopia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hypoalbuminemia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hypoglycemia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hypsarrhythmia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Inappropriate crying PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Increased IgM level PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Increased serum testosterone level PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Infantile Spasm PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Low alkaline phosphatase PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Low posterior hairline PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Lymphocyte count abnormal PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and MCV - raised PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Monocytosis PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Muscle hypotonia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Narrow forehead PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Neutrophil count abnormal PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Neutrophil count decreased PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Osteopenia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Pediatric failure to thrive PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Premature adrenarche PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Pyloric Stenosis PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Retinal pigment epithelial mottling PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Salaam Seizures PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Serum creatinine low PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Short stature PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Sleep Apnea, Central PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Sleep Apnea, Obstructive PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Sleep disturbances PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Solute carrier family 35 member A2 congenital disorder of glycosylation PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

PMID 23561849 2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

PMID 24115232 2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

rs1557043622 in SLC35A2 gene and Strabismus PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Weight less than 3rd percentile PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.