UNC45A Chromosome 15
Unc-45 myosin chaperone A
Upload your DNA to see your personal genotypes for variants in UNC45A.
What This Gene Does
This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140553
Associated Conditions (5)
UNC45A-related disorder
Inborn genetic diseases
Osteootohepatoenteric syndrome
Cholestasis-edema syndrome
Norwegian type
Key Variants
RS113080417
Conflicting classifications of pathogenicity
UNC45A-related disorder, Inborn genetic diseases, UNC45A-related disorder
Health Risk
RS1356232517
Conflicting classifications of pathogenicity
Osteootohepatoenteric syndrome, Cholestasis-edema syndrome, Norwegian type
Health Risk
RS138332774
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139155515
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145502142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2151353536
Conflicting classifications of pathogenicity
Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
Health Risk
RS374140812
Conflicting classifications of pathogenicity
Health Risk
RS569306063
Conflicting classifications of pathogenicity
UNC45A-related disorder, Inborn genetic diseases, UNC45A-related disorder
Health Risk
RS745627109
Conflicting classifications of pathogenicity
Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
Health Risk
RS766346918
Conflicting classifications of pathogenicity
Cholestasis-edema syndrome, Norwegian type, Cholestasis-edema syndrome
Health Risk
RS781377062
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1596206474
Likely pathogenic
Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113080417 | Health Risk | Conflicting classifications of pathogenicity | UNC45A-related disorder, Inborn genetic diseases, UNC45A-related disorder |
| RS1356232517 | Health Risk | Conflicting classifications of pathogenicity | Osteootohepatoenteric syndrome, Cholestasis-edema syndrome, Norwegian type |
| RS138332774 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139155515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145502142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2151353536 | Health Risk | Conflicting classifications of pathogenicity | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS374140812 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569306063 | Health Risk | Conflicting classifications of pathogenicity | UNC45A-related disorder, Inborn genetic diseases, UNC45A-related disorder |
| RS745627109 | Health Risk | Conflicting classifications of pathogenicity | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS766346918 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis-edema syndrome, Norwegian type, Cholestasis-edema syndrome |
| RS781377062 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1596206474 | Health Risk | Likely pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS2543115957 | Health Risk | Likely pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS1383985512 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS2036339787 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS2036482593 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS2543155958 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS2543186334 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS376112577 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |
| RS898865024 | Health Risk | Pathogenic | Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome |