Gene Symbol | KLHL41 |
Entrez Gene ID | 10324 |
Full Name | kelch like family member 41 |
Synonyms | KBTBD10,Krp1,SARCOSIN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nemaline myopathy 9, 615731 (3) |