GART Chromosome 21

Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Purinosome

Locus Type

gene with protein product

Location

21q22.11

Ensembl

ENSG00000159131

Associated Conditions (1)

Esophageal atresia/tracheoesophageal fistula

Key Variants

RS2084898135

Likely pathogenic

Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2084898135	Health Risk	Likely pathogenic	Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula