NOA1

Chr 4

nitric oxide associated 1

Also known as: C4orf14, MTG3, hAtNOS1, hNOA1, mAtNOS1

The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.63
OE 0.46 (0.300.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.901.07)
383 obs / 389.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.300.74)
00.351.4
Missense OE?0.98 (0.901.07)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 13 / 28.0Missense obs/exp: 383 / 389.2Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NOA1 · 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 →