Recombinant Human Kelch repeat and BTB domain-containing protein 10 (KBTBD10)

Uniprot Id

O60662

Target Species

Human

Target Name

KLHL41

Target Full Name

Kelch-like protein 41

Target 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.

Target Involvement

Nemaline myopathy 9 (NEM9)

Target Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, pseudopodium. Cell projection, ruffle. Cytoplasm, myofibril, sarcomere, M line. Sarcoplasmic reticulum membrane. Endoplasmic reticulum membrane.

Target Tissue Specificity

Sarcomeric muscle.

Target Synonyms

cb52 ; fb24f05; fc15e07; Gm112; KBTBA_HUMAN; Kbtbd10; Kel like protein 23; Kel-like protein 23; Kelch related protein 1; Kelch repeat and BTB domain-containing protein 10; Kelch-related protein 1; KRP1; MGC143407 ; Sarcosin; sbcb52; wufb24f05; wufc15e07

Target Background

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.