Recombinant Human Glutamate decarboxylase 1 (GAD1)

Uniprot Id

Q99259

Target Species

Human

Target Name

GAD1

Target Full Name

Glutamate decarboxylase 1

Target Function

Catalyzes the production of GABA.

Target Involvement

Cerebral palsy, spastic quadriplegic 1 (CPSQ1)

Target Protein Families

Group II decarboxylase family

Target Tissue Specificity

Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.

Target Synonyms

67 kDa glutamic acid decarboxylase; CPSQ1; DCE1; DCE1_HUMAN; EC 4.1.1.15; FLJ45882; GAD 1; GAD 67; GAD; GAD-67; GAD1; Glutamate decarboxylase 1 (brain; 67kDa); Glutamate decarboxylase 1; Glutamate decarboxylase 1 brain 67kD; Glutamate decarboxylase 1 brain 67kDa; Glutamate decarboxylase 67 kDa isoform; Glutamate decarboxylase; brain; 67-KD; OTTHUMP00000041054; OTTHUMP00000041055; OTTHUMP00000228572; SCP

Target Background

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.