GAD67 è un gene codificato dal simbolo GAD1. Comunemente indicato anche come: Glutamate decarboxylase 1; 67 kDa glutamic acid decarboxylase; GAD-67; Glutamate decarboxylase 67 kDa isoform; GAD1; GAD. GAD67 ha una massa di 66.9kDa, una lunghezza di amminoacidi di 594, ed è implicato in Cerebral palsy, spastic quadriplegic 1.
Offriamo 16 anticorpi contro GAD67, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Catalyzes the production of GABA.
Sommario di Entrez
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 autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form.
Specificità del tessuto
Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.
Coinvolgimento nella malattia
Cerebral palsy, spastic quadriplegic 1: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.
Somiglianze di sequenza
Belongs to the group II decarboxylase family.
