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The human cartilage link protein, also designated HAPLN1, is a member of the hyaluronan and proteoglycan link protein (HAPLN) family of proteins. This family contains 4 proteins with approximately 50% homology. The human cartilage link protein strengthens tissue architecture by using hyaluronic acid to stabilize the aggregates of proteoglycan monomers inside the extracellular cartilage matrix. It is widely expressed in most tissue types except brain tissue where, much like the other human cart
Enables identical protein binding activity and signaling receptor activity. Acts upstream of or within natural killer cell activation and positive regulation of natural killer cell mediated cytotoxicity. Located in external side of plasma membrane. Is integral component of plasma membrane. Is expressed in thymus primordium. Orthologous to human KLRB1 (killer cell lectin like receptor B1). [provided by Alliance of Genome Resources, Apr 2022]
Enables identical protein binding activity and signaling receptor activity. Acts upstream of or within natural killer cell activation and positive regulation of natural killer cell mediated cytotoxicity. Located in external side of plasma membrane. Is integral component of plasma membrane. Is expressed in thymus primordium. Orthologous to human KLRB1 (killer cell lectin like receptor B1). [provided by Alliance of Genome Resources, Apr 2022]
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Al
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Al
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as