https://www.ncbi.nlm.nih.gov/gene/10324
- Also known as
- Krp1; KBTBD10; SARCOSIN
- 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]
- Expression
- Biased expression in prostate (RPKM 65.0), esophagus (RPKM 43.9) and 2 other tissues See
Ref.
- DNA sequence and muscle-specific expression of human sarcosin transcripts. Taylor A, et al. Mol Cell Biochem, 1998 Jun. PMID 9655184
- Krp1, a novel kelch related protein that is involved in pseudopod elongation in transformed cells. Spence HJ, et al. Oncogene, 2000 Mar 2. PMID 10713668
- Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes. Lim DS, et al. J Am Coll Cardiol, 2001 Oct. PMID 11583900, Free PMC Article
- Nebulin (NEB) interactions with actin and tropomyosin are altered by disease-causing mutations. Marttila M, et al. Skelet Muscle, 2014. PMID 25110572, Free PMC ArticleNemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies.
- NM is caused by mutations in at least nine genes:
- Nebulin (NEB), α-actin (ACTA1),
- α-tropomyosin (TPM3),
- β-tropomyosin (TPM2),
- troponin T (TNNT1),
- cofilin-2 (CFL2),
- Kelch repeat and BTB (POZ) domain-containing 13 (KBTBD13), and
- Kelch-like family members 40 and 41 (
- KLHL40 and
- KLHL41).
- Nebulin is a giant (600 to 900 kDa) filamentous protein constituting part of the skeletal muscle thin filament. Around 90% of the primary structure of nebulin is composed of approximately 35-residue α-helical domains, which form super repeats that bind actin with high affinity. Each super repeat has been proposed to harbor one tropomyosin-binding site.
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Gupta VA, et al. Am J Hum Genet, 2013 Dec 5. PMID 24268659, Free PMC Article
