OPLAH

Chr 8

5-oxoprolinase, ATP-hydrolysing

Also known as: 5-Opase, OPLA, OPLAHD

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProt5-oxoprolinase deficiency
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.87
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.33
OE 0.65 (0.490.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.27Z-score
OE missense 0.97 (0.921.03)
816 obs / 837.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.490.87)
00.351.4
Missense OE?0.97 (0.921.03)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 34 / 52.2Missense obs/exp: 816 / 837.6Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OPLAH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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