Obscurin-Like Protein 1 (OBSL1) ELISA Kit for Human

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

OBSL1: Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2). An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: centrosome; cytoplasm; cytosol; Golgi apparatus; M band; muscle myosin complex; perinuclear region of cytoplasm; Z disc

Molecular Function: actin filament binding; cytoskeletal adaptor activity; muscle alpha-actinin binding; protein binding; structural constituent of muscle

Biological Process: actin filament organization; cardiac myofibril assembly; cytoskeleton organization; Golgi organization and biogenesis; microtubule cytoskeleton organization; positive regulation of dendrite morphogenesis; post-translational protein modification; protein localization to Golgi apparatus; regulation of mitotic nuclear division; sarcomere organization; striated muscle contraction

Disease: Three M Syndrome 2