ADSL / Adenylosuccinate Lyase Recombinant Protein | ADSL recombinant protein

Recombinant Human ADSL / Adenylosuccinate Lyase Protein (His tag)

Cat. Num. AAA2545828

• Gene Names: ADSL; ASL; AMPS; ASASE
• Purity: > 95 % as determined by SDS-PAGE
• Synonyms: ADSL / Adenylosuccinate Lyase; Recombinant Human ADSL / Adenylosuccinate Lyase Protein (His tag); RP5-1042K10.8; AMPS; ASASE; ASL; ADSL recombinant protein

• Host: E Coli
• Purity/Purification: > 95 % as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, 10% glycerol, pH 7.5
• Sequence Length: 484

• Application Notes: The recombinant human ADSL comprises 500 amino acids and has a predicted molecular mass of 57 kDa. It migrates as an approximately 53 kDa band in SDS-PAGE under reducing conditions.
• Predicted N Terminal: Met
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -70 degree C

SDS-PAGE

Related Product Information for ADSL recombinant protein

Background: Adenylosuccinate lyase, also known as adenylosuccinase, ADSL or ASL, is an enzyme implicated in the reaction of adenylosuccinat converting to AMP and fumarate as part of the purine nucleotide cycle. The two substates of adenylosuccinate lyase (ADSL) are dephosphorylated derivatives of SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP), which catalyzes an important reaction in the de novo pathway of purine biosynthesis. ADSL catalyzes two distinct reactions in the synthesis of purine nucleotides, both of which involve the _-elimination of fumarate to produce either aminoimidazole carboxamide ribotide from SAICAR or AMP from S-AMP. The Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder characterized by the present of SAICA riboside and succinyladenosine (S-Ado). ADSL defect in different patients is often caused by different mutations to the enzyme.

Description: A DNA sequence encoding the human ADSL (P30566-1) (Met 1-Leu 484) was expressed, with a polyhistidine tag at the N-terminus.

NCBI and Uniprot Product Information

• NCBI GI #: 4557269
• NCBI GeneID: 158
• NCBI Accession #: NP_000017.1
• NCBI GenBank Nucleotide #: NM_000026.3
• UniProt Accession #: P30566; O75495; Q5TI34; B0QY76
• Molecular Weight: 48,328 Da
• NCBI Official Full Name: adenylosuccinate lyase isoform a
• NCBI Official Synonym Full Names: adenylosuccinate lyase
• NCBI Official Symbol: ADSL
• NCBI Official Synonym Symbols: ASL; AMPS; ASASE
• NCBI Protein Information: adenylosuccinate lyase
• UniProt Protein Name: Adenylosuccinate lyase
• Protein Family: Adenylosuccinate lyase
• UniProt Gene Name: ADSL
• UniProt Synonym Gene Names: AMPS; ASase

NCBI Description

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]

Uniprot Description

ADSL: Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency). ADSL deficiency is an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; EC 4.3.2.2; Lyase; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 22q13.1

Cellular Component: cytosol

Molecular Function: adenylosuccinate lyase activity

Biological Process: AMP biosynthetic process; protein tetramerization; purine nucleotide biosynthetic process; purine ribonucleoside monophosphate biosynthetic process

Disease: Adenylosuccinase Deficiency