pantothenate to pyridoxal

Numerator Metabolite

Structure of pantothenate
Metabolite Accession: GCST90200279
Name: pantothenate
Hmdb Id: HMDB0000210
Super Pathway: NA
Sub Pathway: NA
Inchikey: GHOKWGTUZJEAQD

Denominator Metabolite

Structure of pyridoxal
Metabolite Accession: GCST90200418
Name: pyridoxal
Hmdb Id: HMDB0001545
Super Pathway: NA
Sub Pathway: NA
Inchikey: RADKZDMFGJYCBB

Associated Genomic Regions

Region: rs2384575

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:
2
Beta (Ratio):
-0.128
Position:
27387429
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-8.004
Reference Allele:
T
-log10(P):
-34.349
MAF:
0.291
Beta (Num):
-0.091
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.038
SE (Den):
0.018
No CNV overlap
rQTL cluster:
152
Reaction Distance:
NA
Closest Genes:
TCF23 C2orf53 PREB ABHD1 SLC5A6

LLM Analysis

Numerator Metabolite Explanation:

Coenzyme A (CoA) biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Vitamin B6 metabolism, Salvage pathway6[1], 7[2]

Ratio Explanation:

Altered SLC5A6 function likely affects the transport of its substrates, including pantothenate, leading to an imbalance relative to pyridoxal, which has a different transport mechanism.1[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC5A6 function impairs pantothenate uptake, which is essential for CoA synthesis and numerous metabolic pathways.1[1], 4[2], 9[3] This systemic disruption, including impaired intestinal integrity and inflammatory responses, likely contributes to the observed changes in diverse clinical biomarkers like CRP and blood cell counts.10[4], 11[5], 12[6]

Phenotype Driver:

Gene-centric:SLC5A6

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