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:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs17001868 in ADSL;SGSM3;LOC107985538 gene and Breast size PMID 29855537 2018 Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.