GAD1 [SEP] found in taxon
GAD1
Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human 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
the more common isolated cases of cleft lip/palate is still patchy.
Many clefts run in families, even though in some cases there does not seem to be an identifiable syndrome present, possibly because of the current incomplete genetic understanding of midfacial development.
A number of genes are involved including cleft lip and palate transmembrane protein 1 and GAD1, One study found an association between mutations in the HYAL2 gene and cleft lip and cleft palate formation.
Cause Genetics Syndromes.
- The Van der Woude Syndrome is caused by a