Gene: SLC5A12

Alternate names for this Gene: SMCT2

Gene Summary: Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AY299482.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000396005.8/ ENSP00000379326.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 11

Location in Chromosome : 11p14.2

Description of this Gene: solute carrier family 5 member 12

Type of Gene: protein-coding

rs7112383 in SLC5A12 gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs10835054 in SLC5A12 gene and Erectile dysfunction PMID 30583798 2019 GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.