UniProt functional annotation for Q99259

UniProt code: Q99259.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Catalyzes the production of GABA.
 
Catalytic activity: L-glutamate = 4-aminobutanoate + CO(2).
Cofactor: Pyridoxal phosphate.
Subunit: Homodimer.
Tissue specificity: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.
Disease: Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity: Belongs to the group II decarboxylase family.

Annotations taken from UniProtKB at the EBI.