Invitrogen™ ITGB1BP2 Monoclonal Antibody (K52028_12C5), Invitrogen™

Description

Sequence of this protein is as follows: EAPQPEGPAT SSSLQEQKPL NVIPKSAETL RRERPKSELP LKLLPLNISQ ALEMALEQKE LDQEPGAGLD SLIRTGSSCQ NPGCDAVYQG PESDATPCTY HPGAPRFHEG MKSWSCCGIQ TLDFGAFLAQ PGCRVGRHDW GKQLPASCRH DWHQTDSLVV VTVYGQIPLP AFNWVKASQT ELHVHIVFDG NRVFQAQMKL WGVINVEQSS VFLMPSRVEI SLVKADPGSW AQLEHPDALA KKARAGVVLE MDEEESDDSD DDLSWTEEEE

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.