AASDHPPT
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Summary
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]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs868311667 | 11:105,948,471 | C/T | — | uncertain significance |
| rs370780651 | 11:105,948,472 | C/T | — | uncertain significance |
| rs149825885 | 11:105,948,577 | G/A | — | uncertain significance |
| rs182179695 | 11:105,950,224 | G/A | — | uncertain significance |
| rs141662559 | 11:105,950,245 | T/G | — | uncertain significance |
| rs757307172 | 11:105,950,257 | C/T | — | uncertain significance |
| rs372240914 | 11:105,950,296 | A/G | — | uncertain significance |
| rs1487527396 | 11:105,950,311 | C/A | — | uncertain significance |
| rs560445245 | 11:105,950,315 | A/G | — | uncertain significance |
| rs767341231 | 11:105,950,318 | C/T | — | uncertain significance |
| rs147661207 | 11:105,950,381 | T/C | — | uncertain significance |
| rs1023217274 | 11:105,950,393 | T/C | — | uncertain significance |
| rs752802275 | 11:105,962,070 | A/C | — | uncertain significance |
| rs1259398532 | 11:105,962,083 | T/C | — | uncertain significance |
| rs560817474 | 11:105,962,191 | A/C | — | uncertain significance |
| rs546175982 | 11:105,965,361 | G/A | — | uncertain significance |
| rs761532267 | 11:105,967,515 | A/C | — | uncertain significance |
| rs769999593 | 11:105,967,548 | G/A | — | uncertain significance |
| rs946105689 | 11:105,967,611 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.