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FIGURE: 1 / 2
Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: integrin beta 1 binding protein (melusin) 2; melusin; MGC119214
Gene Aliases: CHORDC3; ITGB1BP; MELUSIN; MSTP015; RGD1565015
UniProt ID: (Human) Q9UKP3
Entrez Gene ID: (Human) 26548, (Rat) 317258
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