Product Overview
Description
CLPP-00150889 is recombinant human MYOZ2 protein
Applications
HPLC, SDS-PAGE
Protein Length
Full length protein
Nature
Recombinant Protein
Endotoxin Level
< 1.000 Eu/µg
Sequence
MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKMRQRRSDKYTFENFQYQSRA
QINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNPDNIAPGYSGPLKEIPPEKFNTTAVPKYYQSPWEQAISNDPELLEALYPKLFKPEGKAELPDYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPRFMSFVNPLSGRRSFNRTPKGWISENIPIVITTEPTDDTTVPESEDLLEHHHHHH
Sequence Similarities
Belongs to the myozenin family.
Predicted Molecular Weight
31 kDa including tags
Target Information
Alternative Names
C4orf5; Calcineurin binding protein calsarcin 1; Calsarcin 1; Calsarcin-1; Calsarcin1; CMH16; CS 1; CS1; FATZ related protein 2; FATZ-related protein 2; Muscle specific protein; MYOZ 2; MYOZ2; MYOZ2_HUMAN; Myozenin-2; Myozenin2
Protein Function
Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.
Tissue Specificity
Expressed specifically in heart and skeletal muscle.
Involvement in Disease
Defects in MYOZ2 are the cause of familial hypertrophic cardiomyopathy type 16 (CMH16). CMH16 is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Shipping & Handling
Constituents
0.12% Tris. Supplied as a 0.2 µM filtered solution.
Shipping
Shipped on Dry Ice.
Storage
Store at -20 °C or -80 °C.
