NME8 Chromosome 7
NME/NM23 family member 8
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What This Gene Does
This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"NME/NM23 family|Thioredoxin domain containing |Dyneins, axonemal outer arm complex subunits"
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000086288
Associated Conditions (4)
Primary ciliary dyskinesia 6
Primary ciliary dyskinesia
NME8-related disorder
Thymoma
Key Variants
RS1176910976
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, Primary ciliary dyskinesia 6
Health Risk
RS146777129
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, NME8-related disorder
Health Risk
RS150497712
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 6, Thymoma
Health Risk
RS201277639
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 6, NME8-related disorder, Primary ciliary dyskinesia
Health Risk
RS369201077
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, Primary ciliary dyskinesia 6
Health Risk
RS567620217
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, Primary ciliary dyskinesia 6
Health Risk
RS754343759
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 6, Primary ciliary dyskinesia
Health Risk
RS760643364
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 6, Primary ciliary dyskinesia 6
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1176910976 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, Primary ciliary dyskinesia 6 |
| RS146777129 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, NME8-related disorder |
| RS150497712 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 6, Thymoma |
| RS201277639 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 6, NME8-related disorder, Primary ciliary dyskinesia |
| RS369201077 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, Primary ciliary dyskinesia 6 |
| RS567620217 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 6, Primary ciliary dyskinesia, Primary ciliary dyskinesia 6 |
| RS754343759 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 6, Primary ciliary dyskinesia |
| RS760643364 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 6, Primary ciliary dyskinesia 6 |