FAHD1

Chr 16

FAH domain containing oxaloacetate decarboxylase 1

Also known as: C16orf36, ODx, YISKL

Enables hydrolase activity, acting on carbon-carbon bonds, in ketonic substances; oxaloacetate decarboxylase activity; and oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.97
LOEUF
GOF
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?
1.97LOEUF
pLI 0.000
Z-score -2.29
OE 1.91 (1.151.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.84Z-score
OE missense 1.44 (1.281.62)
198 obs / 137.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.91 (1.151.97)
00.351.4
Missense OE?1.44 (1.281.62)
00.61.4
Synonymous OE?1.28
01.21.6
LoF obs/exp: 14 / 7.3Missense obs/exp: 198 / 137.3Syn Z: -1.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAHD1 · 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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