UNC45A
Chr 15unc-45 myosin chaperone A
Also known as: GC-UNC45, GCUNC-45, GCUNC45, IRO039700, OOHE, SMAP-1, SMAP1, UNC-45A
The protein acts as a co-chaperone for HSP90 and is necessary for normal cell proliferation, myotube formation, and myosin accumulation during muscle cell development. Mutations cause osteootohepatoenteric syndrome, a multisystem disorder affecting bone, ear, liver, and gastrointestinal systems, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein disruption.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
598 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 5 | 12 | 0 | 20 |
Likely Pathogenic | 5 | 0 | 2 | 0 | 7 |
VUS | 13 | 249 | 19 | 0 | 281 |
Likely Benign | 2 | 6 | 90 | 138 | 236 |
Benign | 0 | 4 | 8 | 9 | 21 |
Conflicting | — | 5 | |||
| Total | 23 | 264 | 131 | 147 | 570 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UNC45A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools