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UDP-galactose translocator
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| SLC35A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC35A2, CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL, solute carrier family 35 member A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 314375; MGI: 1345297; HomoloGene: 136614; GeneCards: SLC35A2; OMA:SLC35A2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
[edit]References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000102100 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031156 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ "Entrez Gene: SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2".
- ^ 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.
- ^ 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
[edit]- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Miura N, Ishida N, Hoshino M, Yamauchi M, Hara T, Ayusawa D, Kawakita M (August 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". Journal of Biochemistry. 120 (2): 236–41. doi:10.1093/oxfordjournals.jbchem.a021404. PMID 8889805.
- Ishida N, Miura N, Yoshioka S, Kawakita M (December 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". Journal of Biochemistry. 120 (6): 1074–8. doi:10.1093/oxfordjournals.jbchem.a021523. PMID 9010752.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Yoshioka S, Sun-Wada GH, Ishida N, Kawakita M (October 1997). "Expression of the human UDP-galactose transporter in the Golgi membranes of murine Had-1 cells that lack the endogenous transporter". Journal of Biochemistry. 122 (4): 691–5. doi:10.1093/oxfordjournals.jbchem.a021810. PMID 9399569.
- Aoki K, Ishida N, Kawakita M (June 2001). "Substrate recognition by UDP-galactose and CMP-sialic acid transporters. Different sets of transmembrane helices are utilized for the specific recognition of UDP-galactose and CMP-sialic acid". The Journal of Biological Chemistry. 276 (24): 21555–61. doi:10.1074/jbc.M101462200. PMID 11279205.
- Kumamoto K, Goto Y, Sekikawa K, Takenoshita S, Ishida N, Kawakita M, Kannagi R (June 2001). "Increased expression of UDP-galactose transporter messenger RNA in human colon cancer tissues and its implication in synthesis of Thomsen-Friedenreich antigen and sialyl Lewis A/X determinants". Cancer Research. 61 (11): 4620–7. PMID 11389099.
- Sprong H, Degroote S, Nilsson T, Kawakita M, Ishida N, van der Sluijs P, van Meer G (August 2003). "Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum". Molecular Biology of the Cell. 14 (8): 3482–93. doi:10.1091/mbc.E03-03-0130. PMC 181583. PMID 12925779.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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