*Storage: Store all reagents at 2-8 degree C; *Accession#: CAG33228.1; P07339; *NCBI Summary: This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008]; *Uniprot Summary: Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.Catalytic activity: Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.Subunit structure: Consists of a light chain and a heavy chain.Subcellular location: Lysosome. Melanosome. Secreted › extracellular space. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (Ref.17). Ref.10 Ref.14 Ref.17Tissue specificity: Expressed in the aorta extrcellular space (at protein level). Ref.17Post-translational modification: N- and O-glycosylated. Ref.11 Ref.19Polymorphism: The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers.Involvement in disease: Neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage dis...
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