ADSL antibody,Genetex,GTX30029
Host
Rabbit
Reactivity
Human
Application
WB ICC/IF
Conjugate
Unconjugated
Platform ID
BAB309919427
Genetex
Contact
Tel: 1-949-553-1900
Fax: 1-949-309-2888
Email:
Specifications
Scientific Background
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. [provided by RefSeq, Dec 2015]
Synonyms
adenylosuccinate lyase , AMPS , ASASE , ASL
Category Paths
- Products>Primary Antibodies>Polyclonal Antibodies
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