Obscurin Antikörper

OBSL1 (Obscurin-like 1) is a novel 1,401 amino acid cytoskeletal adaptor protein that is closely related to Obscurin and links internal cytoskeletons to the cell membrane. Existing as two alternatively spliced isoforms, OBSL1 belongs to the Unc-89/Obscurin family and is widely expressed, with highest levels found in heart and ovary, followed by testis, brain and skeletal muscle. OBSL1 contains one fibronectin type-III domain, eleven Ig-like (immunoglobulin-like) domains, and is encoded by a gene that maps to human chromosome 2q35. Defects in the OBSL1 gene are the cause of an autosomal recessive disorder known as 3M syndrome type 2 (3M2), in which patients exhibit short stature, a short upturned nose with anteverted nares, full lips, triangular shaped face, frontal bossing and distinguished heels.