KLHL41 (2q31.1), Sarkosiini, Lihasten erilaistuminen, Nemaliinimyopatia 9,

https://www.omim.org/entry/607701

 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. 

1. DNA sequence and muscle-specific expression of human sarcosin transcripts. Taylor A, et al. Mol Cell Biochem, 1998 Jun. PMID 9655184
2. 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
3. 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
4. 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. 
5. 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.

1. 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

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