KLHL41
Function
Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells.
Involvement in disease
Nemaline myopathy 9
NEM9
An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination.
Tissue Specificity
Sarcomeric muscle.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cell projection
- Pseudopodium
- Cell projection
- Ruffle
- Cytoplasm
- Myofibril
- Sarcomere
- M line
- Sarcoplasmic reticulum membrane
- Endoplasmic reticulum membrane
- Predominantly cytoplasmic but can colocalize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia.
Alternative names
KBTBD10, KRP1, KLHL41, Kelch-like protein 41, Kel-like protein 23, Kelch repeat and BTB domain-containing protein 10, Kelch-related protein 1, Sarcosin