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The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H,

The major features of Wegener granulomatosis are necrotizing granulomatous lesions, which most often affect the upper and lower airways and are associated with vasculitis, necrotizing glomerulonephritis and pulmonary capillaritis. The antigen responsible for this disease is Proteinase 3 (PR3, P29 or myeloblastin), which is one of the antibiotic proteins of neutrophilic granules belonging to the serine protease family. It is closely related to two others: Neutrophil Elastase and azurocidin.

The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].

Hippocalcin is a neuron-specific calcium-binding protein found primarily in the plasma membrane of brain and retinal tissue, with increased expression observed in hippocampal pyramidal cells. Through its calcium-dependent signal regulation, hippocalcin can both inhibit rhodopsin kinase and increase phospholipase D2 expression. In order to regulate kinase and phospholipase activity, hippocalcin must bind to the plasma membrane where it can then bind two calcium ions for use in signal regulati

DnaJ-like proteins interact with HSP 70 molecular chaperones and function to facilitate protein folding and mitochondrial protein import. HSP 40-4, also known as HDJ2, is the human DnaJ homolog that functions as a co-chaperone with a cysteine-rich zinc finger domain. The cellular redox enzyme thioredoxin interacts with HSP 40-4, and oxidation and reduction reversibly regulate HSP 40-4 function in response to the changing redox states of the cell. The zinc finger domain of HSP 40-4 may act a

This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have bee