From Wikipedia, the free encyclopedia
(Redirected from SLC35A2)
SLC35A2
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
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 Mb Chr X: 7.75 – 7.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. [7]

See also

References

  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. ^ 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

From Wikipedia, the free encyclopedia
(Redirected from SLC35A2)
SLC35A2
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
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 Mb Chr X: 7.75 – 7.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. [7]

See also

References

  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. ^ 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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