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UDP-galactose translocator

From Wikipedia, the free encyclopedia
SLC35A2
Identifiers
AliasesSLC35A2, CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL, solute carrier family 35 member A2
External IDsOMIM: 314375; MGI: 1345297; HomoloGene: 136614; GeneCards: SLC35A2; OMA:SLC35A2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001083937
NM_078484

RefSeq (protein)

NP_001077406
NP_511039

Location (UCSC)Chr X: 48.9 – 48.91 MbChr X: 7.75 – 7.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

UDP-galactose translocator is a protein that in humans is encoded by the SLC35A2 gene.[5][6]

Somatic loss-of-function variants in the SLC35A2 gene were originally associated with focal epilepsy with radiographically nonlesional epilepsy.[7] Later it was discovered that individuals with somatic variants in SLC35A2 have a mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), which is a subtype of frontal lobe epilepsy.[8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102100Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031156Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hara T, Yamauchi M, Takahashi E, Hoshino M, Aoki K, Ayusawa D, Kawakita M (November 1993). "The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus". Somatic Cell and Molecular Genetics. 19 (6): 571–5. doi:10.1007/BF01233383. PMID 8128316. S2CID 10466290.
  6. ^ "Entrez Gene: SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2".
  7. ^ Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AM, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HG, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL (June 2018). "Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy". Ann Neurol. 83 (6): 1133–46. doi:10.1002/ana.25243. PMC 6105543. PMID 29679388.
  8. ^ Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, et al. (January 2021). "Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)". Acta Neuropathologica Communications. 9 (1): 3. doi:10.1186/s40478-020-01085-3. PMC 7788938. PMID 33407896.

Further reading

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