PRODH2
proline dehydrogenase 2
Summary
The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1338239530 | 19:36,290,962 | C/T | — | uncertain significance |
| rs752268187 | 19:36,290,975 | G/A | — | uncertain significance |
| rs942516903 | 19:36,291,014 | G/A | — | uncertain significance |
| rs202086828 | 19:36,291,022 | T/A | — | uncertain significance |
| rs759488879 | 19:36,291,034 | C/T | — | uncertain significance |
| rs375683863 | 19:36,291,043 | T/C | — | uncertain significance |
| rs762357392 | 19:36,291,047 | C/A | — | uncertain significance |
| rs538895796 | 19:36,291,048 | C/G | — | uncertain significance |
| rs146900274 | 19:36,291,052 | C/T | — | uncertain significance |
| rs760256917 | 19:36,293,160 | A/C | — | uncertain significance |
| rs1325499874 | 19:36,293,175 | C/T | — | uncertain significance |
| rs766423214 | 19:36,293,936 | T/C | — | likely benign |
| rs767721964 | 19:36,293,951 | G/A | — | uncertain significance |
| rs553353688 | 19:36,293,972 | C/T | — | uncertain significance |
| rs377146596 | 19:36,293,973 | G/A | — | uncertain significance |
| rs73594419 | 19:36,297,324 | G/A | — | likely benign |
| rs143516672 | 19:36,297,395 | G/A | — | uncertain significance |
| rs146276996 | 19:36,297,423 | G/T | — | benign |
| rs1391404496 | 19:36,297,464 | G/T | — | uncertain significance |
| rs140524915 | 19:36,297,485 | C/T | — | uncertain significance |
| rs201263714 | 19:36,297,486 | G/A | — | uncertain significance |
| rs374862167 | 19:36,297,488 | T/A | — | uncertain significance |
| rs370670183 | 19:36,297,620 | T/C | — | uncertain significance |
| rs182628111 | 19:36,297,626 | G/A | — | uncertain significance |
| rs776780181 | 19:36,297,639 | G/T | — | uncertain significance |
| rs772355837 | 19:36,297,710 | C/T | — | uncertain significance |
| rs148139007 | 19:36,297,725 | C/T | — | likely benign |
| rs73594420 | 19:36,298,022 | T/C | — | benign |
| rs201742362 | 19:36,302,863 | C/A | splice region variant | — |
| rs116583133 | 19:36,302,871 | G/C | — | likely benign |
| rs771614678 | 19:36,302,911 | A/T | — | uncertain significance |
| rs28563032 | 19:36,302,936 | C/T | — | benign |
| rs770881113 | 19:36,303,148 | C/T | — | uncertain significance |
| rs1972627954 | 19:36,303,313 | G/A | — | uncertain significance |
| rs746889797 | 19:36,303,400 | G/A | — | uncertain significance |
| rs770978644 | 19:36,303,403 | C/T | — | uncertain significance |
| rs140649526 | 19:36,303,442 | C/G | — | uncertain significance |
| rs145370717 | 19:36,303,543 | G/C | — | uncertain significance |
| rs201790345 | 19:36,303,656 | C/G | — | uncertain significance |
| rs370209287 | 19:36,303,700 | C/G | — | uncertain significance |
| rs147976493 | 19:36,303,701 | G/A | — | uncertain significance |
| rs141807024 | 19:36,303,736 | G/A | — | likely benign |
| rs542606348 | 19:36,304,056 | T/A | — | uncertain significance |
| rs61995739 | 19:36,304,080 | G/A | — | likely benign |
| rs769056352 | 19:36,304,112 | G/A | — | likely benign |
| rs758955765 | 19:36,304,179 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.