rs1587550672
This variant is located in the OPLAH gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout OPLAH
The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
View all OPLAH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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