rs754059081

This variant is located in the KYNU gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Vertebral, cardiac, renal, and limb defects syndrome 2

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About KYNU

Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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