Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SLC23A2 contributors: mct/npt/pgu - updated : 25-08-2011
HGNC name solute carrier family 23 (nucleobase transporters), member 2
HGNC id 10973
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility to preterm delivery
Variant & Polymorphism SNP increasing the risk for preterm delivery
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurology  
therapeutic approaches to peripheral neuropathies by manipulation of SLC23A2 function
ANIMAL & CELL MODELS
  • lack of Svct2, and the resulting low vitamin C levels, results in fetal death and, in SVCT2(-/-) mice that survive the gestation period, in oxidative stress and cell death
  • mice that lack the Svct2 die at birth, despite the ability to synthesize their own ASC by embryonic day 15