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Reconstitute at 0.5 mg/mL in sterile PBS.
Integrin beta-1 binding protein 2 (ITGB1BP2), commonly referred to as Melusin, is a gene located on human chromosome 8p21.3. ITGB1BP2 is known for its role in cardiac muscle function, encoding a protein that interacts with integrin β1, which is essential for integrin signaling pathways. This gene is implicated in hypertrophic cardiomyopathy and dilated cardiomyopathy, conditions that affect heart muscle structure and function. ITGB1BP2 gene variations have been observed in families with hypertension or primary hypertrophic cardiomyopathy, although clear genotype/phenotype correlations were not conclusively established. Notably, a specific missense mutation in ITGB1BP2, involving alanine-to-glycine substitution at position 313, has been identified in patients with dilated cardiomyopathy. Melusin, the protein encoded by ITGB1BP2, plays a crucial role in mechanotransduction processes, influencing cellular responses to mechanical stress, which is particularly important in cardiac tissue adaptation and repair mechanisms.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: integrin beta 1 binding protein (melusin) 2; integrin beta 1 binding protein 2; Integrin beta-1-binding protein 2; Melusin; MGC119214
基因别名: CHORDC3; ITGB1BP; ITGB1BP2; MELUSIN; MSTP015
UniProt ID: (Human) Q9UKP3
Entrez Gene ID: (Human) 26548