Gene: ADSL
Alternate names for this Gene: AMPS|ASASE|ASL
Gene Summary: The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: adenylosuccinate lyase
Type of Gene: protein-coding
Gene: SGSM3
Alternate names for this Gene: CIP85|MAP|RABGAP5|RUSC3|RUTBC3|RabGAP-5|rabGAPLP
Gene Summary:
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: small G protein signaling modulator 3
Type of Gene: protein-coding
Gene: LOC107985538
Alternate names for this Gene:
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