UNC45A

UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM, Mar 2008]

Full Name

Unc-45 Myosin Chaperone A

Function

Acts as 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).

Biological Process

Biological Process cell differentiation Source:UniProtKB-KW
Biological Process chaperone-mediated protein folding Source:GO_Central1 Publication
Biological Process muscle organ development Source:UniProtKB-KW

Cellular Location

Cytoplasm
Cytoplasm, perinuclear region
Nucleus
Predominant in the perinuclear region. Little protein in the nucleus.

Involvement in disease

Osteootohepatoenteric syndrome (OOHE):
An autosomal recessive disorder characterized by cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Some patients also display mild developmental delay and intellectual disability.