RSPH4A Chromosome 6
Radial spoke head component 4A
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What This Gene Does
This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Axonemal radial spoke subunits
Locus Type
gene with protein product
Location
6q22.1
Ensembl
ENSG00000111834
Associated Conditions (10)
Primary ciliary dyskinesia 11
Primary ciliary dyskinesia
RSPH4A-related disorder
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Malignant tumor of esophagus
Lung cancer
Respiratory ciliopathies including non-CF bronchiectasis
Kartagener syndrome
Neurodevelopmental delay
Key Variants
RS1248636409
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 11, Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
Health Risk
RS139745647
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS140660854
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 11, Primary ciliary dyskinesia, RSPH4A-related disorder
Health Risk
RS141226759
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
Health Risk
RS142977481
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, RSPH4A-related disorder
Health Risk
RS143732959
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 11, Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
Health Risk
RS145831200
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
Health Risk
RS146142715
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, RSPH4A-related disorder
Health Risk
RS147003118
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
Health Risk
RS1775514576
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS180881714
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
Health Risk
RS183372450
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 11, Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750528020 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Respiratory ciliopathies including non-CF bronchiectasis |
| RS751963395 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS753041231 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS755782051 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS756868889 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia |
| RS767646489 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia |
| RS780292620 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia |
| RS869320683 | Health Risk | Pathogenic | Primary ciliary dyskinesia 11, Kartagener syndrome, Primary ciliary dyskinesia |
| RS902750903 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS118204043 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 11, Primary ciliary dyskinesia, Primary ciliary dyskinesia 11 |
| RS1775719317 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Primary ciliary dyskinesia, Neurodevelopmental delay |
| RS1775758975 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS368110732 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia |
| RS762267064 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS768986129 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 11, Primary ciliary dyskinesia, Primary ciliary dyskinesia 11 |