UDP-galactose translocator

UDP-galactose translocator is a protein that in humans is encoded by the SLC35A2 gene.[3][4]

SLC35A2
Identifiers
AliasesSLC35A2, CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL, solute carrier family 35 member A2
External IDsOMIM: 314375 HomoloGene: 136614 GeneCards: SLC35A2
Orthologs
SpeciesHumanMouse
Entrez

7355

n/a

Ensembl

ENSG00000102100

n/a

UniProt

P78381

n/a

RefSeq (mRNA)

n/a

RefSeq (protein)

n/a

Location (UCSC)Chr X: 48.9 – 48.91 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Variants of the SLC35A2 gene haven linked to mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), which is a subtype of frontal lobe epilepsy.[5]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000102100 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. 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.
  4. "Entrez Gene: SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2".
  5. 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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