GAD1 gene

glutamate decarboxylase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Catalyzes the production of GABA.

From NCBI Gene:

  • Cerebral palsy, spastic quadriplegic, 1

From UniProt:

Cerebral palsy, spastic quadriplegic 1 (CPSQ1): 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. [MIM:603513]

Cytogenetic Location: 2q31, which is the long (q) arm of chromosome 2 at position 31

Molecular Location: base pairs 170,813,210 to 170,861,151 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q31, which is the long (q) arm of chromosome 2 at position 31
  • CPSQ1
  • GAD
  • SCP