Aliases for KLHL41 Gene
External Ids for KLHL41 Gene
Previous HGNC Symbols for KLHL41 Gene
Previous GeneCards Identifiers for KLHL41 Gene
This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
GeneCards Summary for KLHL41 Gene
KLHL41 (Kelch Like Family Member 41) is a Protein Coding gene. Diseases associated with KLHL41 include Nemaline Myopathy 9 and Intermediate Congenital Nemaline Myopathy. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KLHL40.
UniProtKB/Swiss-Prot for KLHL41 Gene
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.