rs1023217274

This variant is located in the AASDHPPT gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AASDHPPT

The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]

View all AASDHPPT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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