SLC45A1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox gene}}

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.{{cite journal | vauthors = Bartölke R, Heinisch JJ, Wieczorek H, Vitavska O | title = Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae | journal = The Biochemical Journal | volume = 464 | issue = 2 | pages = 193–201 | date = December 2014 | pmid = 25164149 | doi = 10.1042/BJ20140572 }}

It is associated with sugar transport in the brain, and rare mutations in the gene are associated with intellectual disability and epilepsy.{{cite journal | vauthors = Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL | display-authors = 6 | title = Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy | journal = American Journal of Human Genetics | volume = 100 | issue = 5 | pages = 824–830 | date = May 2017 | pmid = 28434495 | pmc = 5420346 | doi = 10.1016/j.ajhg.2017.03.009 }} analogous to the effect of mutation of the cerebral glucose transporter GLUT1(SLC2A1).