hexanoylglycine to glycine

Numerator Metabolite

Structure of hexanoylglycine
Metabolite Accession: GCST90199781
Name: hexanoylglycine
Hmdb Id: HMDB0000701
Super Pathway: NA
Sub Pathway: NA
Inchikey: UPCKIPHSXMXJOX

Denominator Metabolite

Structure of glycine
Metabolite Accession: GCST90200707
Name: glycine
Hmdb Id: HMDB0000123
Super Pathway: NA
Sub Pathway: NA
Inchikey: DHMQDGOQFOQNFH

Associated Genomic Regions

Region: rs4646961

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):
-0.375
Position:
76217169
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-16.390
Reference Allele:
G
-log10(P):
-137.342
MAF:
0.286
Beta (Num):
-0.284
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.091
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism

Denominator Metabolite Explanation:

Reductive glycine pathway, Glycine cleavage/synthase system

Ratio Explanation:

An elevated ratio of hexanoylglycine to glycine can indicate impaired ACADM function, leading to the accumulation of hexanoyl-CoA, which is then conjugated with glycine.4[1], 5[2], 6[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Deficient ACADM activity leads to the accumulation of hexanoyl-CoA, which is alternatively conjugated with glycine, forming hexanoylglycine, a hallmark of MCAD deficiency.4[1], 1[2], 5[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