OGDHL

Chr 10

oxoglutarate dehydrogenase L

Also known as: YOBELN

The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtYoon-Bellen neurodevelopmental syndrome
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 3.29
OE 0.48 (0.350.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.50Z-score
OE missense 0.94 (0.881.01)
610 obs / 645.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.350.69)
00.351.4
Missense OE?0.94 (0.881.01)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 23 / 47.5Missense obs/exp: 610 / 645.6Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OGDHL · 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.

Search ClinicalTrials.gov →