MDH1B

Chr 2

malate dehydrogenase 1B

Also known as: RP11-95H11

NCBI Gene: 130752ENSG00000138400UniProt: Q5I0G3

The protein functions as an L-malate dehydrogenase that uses NAD+ as a cofactor and participates in the tricarboxylic acid cycle and cellular energy metabolism. This gene is extremely intolerant to loss-of-function mutations based on constraint metrics, but no established human disease associations have been reported to date. Clinical significance of variants in this gene remains to be determined.

ResearchSummary from RefSeq
LOEUF 1.18
Clinical Summary— MDH1B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.18LOEUF
pLI 0.000
Z-score 0.82
OE 0.83 (0.60–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.45Z-score
OE missense 0.93 (0.84–1.02)
264 obs / 285.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.83 (0.60–1.18)
0≤0.351.4
Missense OE0.93 (0.84–1.02)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 23 / 27.7Missense obs/exp: 264 / 285.3Syn Z: 0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MDH1B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients