Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs4344931

Hard Link
rs4344931 is a snp on gene AGXT (alanine-glyoxylate aminotransferase)

GeneAGXT Chromosome number 2 Chromosome position 240879110
Alleles A/C/G Minor Allele A Minor Allele Frequency 0.2802
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
The AGXT gene provides instructions for making a liver enzyme called 'alanine-glyoxylate aminotransferase'. Inside liver cells, this enzyme is found in peroxisomes, structures that are important for several cellular activities such as ridding the cell of toxic substances and helping to break down certain fats, especially during gluconeogenesis. Peroxisomes contain several enzymes that are imported from the internal fluid of the cell (cytosol). Enzymes that are transferred into peroxisomes have a special arrangement of building blocks (amino acids) at one end of the enzyme that serves as a shipping address. In the peroxisome, alanine-glyoxylate aminotransferase converts a compound called glyoxylate to the amino acid glycine, which is later used for making enzymes and other proteins.  Significance in patients who suffer low blood sugar, poor carbohydrate and sugar metabolism can form high oxalates with or without high oxalates in their diet. Elevated glyoxylates are becoming a marker for Type 2 diabetes. Excess dietary oxalates are absorbed when there is gall bladder issues and poor digestion. Low sulfate diet increases oxalate retention in the tissues. Elevated urine sulfates and oxalates trapped in the tissues. symptoms of chronic pain and fatigue. B6 and lysine deficiency reduces the ability to remove glyoxylates and oxalates in the body.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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