ADSL(adenylosuccinate lyase) is also named as AMPS, ASase, ASL and belongs to the lyase 1 family. It is an enzyme involved in 2 pathways of purine nucleotide metabolism and catalyzes cleavage of succinyl groups to yield fumarate(PMID:18524658). Defects in ADSL are the cause of adenylosuccinase deficiency(ADSL deficiency). In humans, mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay, often with autistic features(PMID:20884265)..The ADSL enzymatic activity is reduced in lymphocytes and red blood cells of the patient with severe psychomotor retardation(PMID:9545543). It has 2 isoforms produced by alternative splicing.
Categories
Primary Antibodies
Cellular Localization
Cytosol
Clonality
polyclonal
Description
ADSL(adenylosuccinate lyase) is also named as AMPS, ASase, ASL and belongs to the lyase 1 family. It is an enzyme involved in 2 pathways of purine nucleotide metabolism and catalyzes cleavage of succinyl groups to yield fumarate(PMID:18524658). Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency). In humans, mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay, often with autistic features(PMID:20884265)..The ADSL enzymatic activity is reduced in lymphocytes and red blood cells of the patient with severe psychomotor retardation(PMID:9545543). It has 2 isoforms produced by alternative splicing.
Host
Rabbit
Immunogen
adenylosuccinate lyase
Isotype
IgG
Molecular Weight
55 kDa
Reactivity
Human, Mouse, Rat
Regulatory
RUO
Subcellular Location
cytosol
Synonyms
Adenylosuccinase, adenylosuccinate lyase, ADSL, AMPS, ASASE, ASL
Uniprot
P30566
Gene Id
158
Research Area
Metabolism
Weight
55kDa
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months(Avoid repeated freeze / thaw cycles.)