NMRAL1

Chr 16

NmrA like redox sensor 1

Also known as: HSCARG, SDR48A1

NCBI Gene: 57407ENSG00000153406UniProt: Q9HBL8

This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.000
Z-score 0.76
OE 0.76 (0.46–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.73Z-score
OE missense 1.15 (1.03–1.29)
216 obs / 187.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.46–1.33)
0≤0.351.4
Missense OE?1.15 (1.03–1.29)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 9 / 11.8Missense obs/exp: 216 / 187.7Syn Z: -0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NMRAL1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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