Description
Product Characteristics:
KY peptidase (Kyphoscoliosis peptidase) is a 561 amino acid cytoskeleton protease that interacts with several sarcomeric cytoskeletal proteins, including Filamin 2. KY peptidase probably plays a role in the maturation, function and stabilization of the neuromuscular junction. KY-null mouse mutants exhibit distinct irregular subceullular Filamin 2 localization, suggesting that KY peptidase deficiency may be the cause of several types of limb-girdle muscular dystrophies.
Subcellular location: Cytoplasm
Synonyms: KY, KY_HUMAN, Kyphoscoliosis peptidase.
Target Information: This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008]