NME5 Chromosome 5
NME/NM23 family member 5
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What This Gene Does
Enables 3'-5' exonuclease activity. Involved in spermatid development. Predicted to be located in 9+2 motile cilium. Predicted to be part of radial spoke. Predicted to be active in cilium. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
NME/NM23 family
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000112981
Associated Conditions (4)
Ciliary dyskinesia
primary
48
without situs inversus
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS182049871 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 48 |
| RS2481809653 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 48 |