UNC45B
Developmental stage
Expressed from 43-day and 54-day embryonic eye development.
Function
Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.
Involvement in disease
Cataract 43
CTRCT43
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
None
The disease is caused by variants affecting the gene represented in this entry.
Myopathy, myofibrillar, 11
MFM11
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM11 is an autosomal recessive form characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in eye lens tissues. Expressed in muscle (at protein level) (PubMed:33217308).
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
- Cytoplasm
- Myofibril
- Sarcomere
- A band
- Cytoplasm
- Perinuclear region
- Cytoplasm
- Cytosol
- Expressed at the Z line and in the perinuclear region of myofibrils. Translocates to the A band in response to stress conditions and fibril damage.
Alternative names
CMYA4, UNC45, UNC45B, Protein unc-45 homolog B, Unc-45B, SMUNC45