Home > Gene Browser > NOXO1

NOXO1

Synonyms
P41NOX, P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28
External resources
Summary
This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
9,714
Likely benign
1,191
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NOXO1 gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes