glutamine conjugate of c6h10o2 (1)* to Hexanoylcarnitine

Numerator Metabolite

Metabolite Accession: GCST90200176
Name: glutamine conjugate of c6h10o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs2185152

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.565
Position:
76224010
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
29.524
Reference Allele:
C
-log10(P):
-439.437
MAF:
0.311
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.432
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, amino acid conjugation.8[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine transport.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio likely indicates the partitioning of excess hexanoyl-CoA, which accumulates from deficient ACADM activity, between glutamine and carnitine conjugation detoxification pathways.7[1], 10[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Deficient ACADM activity impairs fatty acid oxidation, causing accumulation of upstream metabolites like hexanoylcarnitine. This metabolic disruption leads to abnormal lipid profiles, including elevated triglycerides and cholesterol, which are recognized as disorders of lipoprotein metabolism.7[1], 12[2], 13[3]

Phenotype Driver:

Gene-centric:[ACADM]

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data