UNC45A

Chr 15AR

unc-45 myosin chaperone A

Also known as: GC-UNC45, GCUNC-45, GCUNC45, IRO039700, OOHE, SMAP-1, SMAP1, UNC-45A

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]

OMIMResearchGenerating clinical summary…
MultiplemechanismARLOEUF 0.741 OMIM phenotype
Clinical SummaryUNC45A
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 3.00
OE 0.53 (0.390.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.19Z-score
OE missense 0.98 (0.911.05)
562 obs / 575.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.390.74)
00.351.4
Missense OE?0.98 (0.911.05)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 25 / 47.2Missense obs/exp: 562 / 575.0Syn Z: -0.30
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongUNC45A-related osteootohepatoenteric syndromeOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.74top 25%
GOF
0.72top 25%
LOF
0.2874th %ile

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

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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