Locus 43: SLC22A4|SLC22A5 (5q31.1)
EA = effect allele; OA = other allele; EAF = frequency of effect allele;
Summary of biological annotations |
SNP | rs272889 |
Chromosomal location | Chr5: 131,693,277 (5q31.1) |
Gene (distance) | SLC22A4 (0) |
Predicted causal gene | SLC22A5 |
Gene/protein classification | - |
Metabolite (Pathway) | valine (Valine, leucine and isoleucine metabolism; Amino acid) isovalerylcarnitine (Valine, leucine and isoleucine metabolism; Amino acid) |
Biochemical locus-metabolite relationship | SLC22A4 and SLC22A5 encode the OCTN1 and OCTN2 organic cation transporters and both have documented carnitine transport activity [21045919]. Ratio interpretation: isovalerylcarnitine is related to isovaleryl-CoA, an intermediate in the breakdown of branch chain amino acid, leucine. Valine, as an additional branch chain amino acid, may be normalizing for the branch chain amino acid pool ('normalizing'). |
eQTL associations | SLC22A4 (S), P4HA2 (L), P4HA2 (S), PDLIM4 (S), RAD50 (F), RAD50 (L), SLC22A5 (L), SLC22A5 (S) † |
† F = adipose tissue; S = skin cells; L = lymphoblastoid cells; H = liver cells;
Medical information |
Complex trait associations | Height [20881960] |
Known metabolite associations | isovalerylcarnitine [21886157]; Valine/C5 [20037589] |
Inborn error of metabolism | Carnitine brain transporter deficiency |
Locus information for top associated metabolite |
HapMap2 imputation | 1KGP imputation |

