SLC45A1
| SLC45A1 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 1: 8.32 – 8.34 Mb | Chr 4: 150.71 – 150.74 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
SLC45A1 is a member of the SLC45 family of solute carriers. Analysis of the protein function in a recombinant yeast expression assay show that it can: (i) transport a disaccharide, such as glucose and sucrose (ii) perform secondary active transport in a proton-dependent manner.[5]
It is associated with sugar transport in the brain, and rare mutations in the gene are associated with intellectual disability and epilepsy.[6] analogous to the effect of mutation of the cerebral glucose transporter GLUT1(SLC2A1).
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000162426 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039838 – 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.
- PMID 25164149.
- PMID 28434495.