UNC45A

Chr 15q26.1

unc-45 myosin chaperone A

Aliases:: SMAP-1, GC-UNC45
MANE:: ENST00000418476.2

OMIM: 611219 ↗NCBI: 55898 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

UNC45A · Q9H3U1

v62025-08-01

Predicted Aligned Error matrix for UNC45A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.1/ 100

Confident

944 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)42%
Low(50–70)5%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteootohepatoenteric syndrome
0.72
Aagenaes syndrome
0.53
Cholestasis-lymphedema syndrome
0.43
type 2 diabetes mellitus
0.20
hereditary disease
0.19
Increased susceptibility to fractures
0.15
Diarrhea
0.15
Hearing impairment
0.15
Romano-Ward syndrome
0.08
familial long QT syndrome
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein unc-45 homolog A

Acts as a co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity)