Adenylosuccinate Lyase Recombinant Protein | ADSL recombinant protein

Recombinant Human Adenylosuccinate Lyase

Cat. Num. AAA144346

• Gene Names: ADSL; ASL; AMPS; ASASE
• Purity: Greater than 95.0% as determined by SDS-PAGE.
• Synonyms: Adenylosuccinate Lyase; Recombinant Human Adenylosuccinate Lyase; ADSL Human; Adenylosuccinate Lyase Human Recombinant; Adenylosuccinate lyase; ASL; Adenylosuccinase; ASase; ADSL; AMPS; ADSL recombinant protein

• Host: E Coli
• Purity/Purification: Greater than 95.0% as determined by SDS-PAGE.
• Form/Format: The ADSL solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 1mM DTT, 40% glycerol and 0.1M NaCl.; Sterile Filtered colorless solution.
• Sequence: MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSMAAG GDHGSPDSYR SPLASRYASP EMCFVFSDRY KFRTWRQLWL WLAEAEQTLG LPITDEQIQE MKSNLENIDF KMAAEEEKRL RHDVMAHVHT FGHCCPKAAG IIHLGATSCY VGDNTDLIIL RNALDLLLPK LARVISRLAD FAKERASLPT LGFTHFQPAQ LTTVGKRCCL WIQDLCMDLQ NLKRVRDDLR FRGVKGTTGT QASFLQLFEG DDHKVEQLDK MVTEKAGFKR AFIITGQTYT RKVDIEVLSV LASLGASVHK ICTDIRLLAN LKEMEEPFEK QQIGSSAMPY KRNPMRSERC CSLARHLMTL VMDPLQTASV QWFERTLDDS ANRRICLAEA FLTADTILNT LQNISEGLVV YPKVIERRIR QELPFMATEN IIMAMVKAGG SRQDCHEKIR VLSQQAASVV KQEGGDNDLI ERIQVDAYFS PIHSQLDHLL DPSSFTGRAS QQVQRFLEEE VYPLLKPYES VMKVKAELCL.
• Sequence Length: 484

• Preparation and Storage: Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.

Related Product Information for ADSL recombinant protein

Description: ADSL Human Recombinant produced in E Coli is a single, non-glycosylated polypeptide chain containing 520 amino acids (1-484) and having a molecular mass of 59kDa.ADSL is fused to a 36 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Introduction: Adenylosuccinate lyase (ADSL) is an enzyme which converts adenylosuccinate to AMP and fumarate as part of the purine nucleotide cycle. ADSL is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. ADSL catalyzes 2 reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to yield aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to yield AMP. Defects in the ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency). ADSL deficiency is an autosomal recessive disorder distinguished by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and in some cases, growth retardation associated with muscle wasting and epilepsy.

Product Categories/Family for ADSL recombinant protein

Enzymes; Lyase

NCBI and Uniprot Product Information

• NCBI GI #: 4557269
• NCBI GeneID: 158
• NCBI Accession #: NP_000017.1
• NCBI GenBank Nucleotide #: NM_000026.2
• 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; adenylosuccinase
• UniProt Protein Name: Adenylosuccinate lyase
• Protein Family: Adenylosuccinate lyase
• UniProt Gene Name: ADSL
• UniProt Synonym Gene Names: AMPS; ASL; ASase
• UniProt Entry Name: PUR8_HUMAN

NCBI Description

Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

Chromosomal Location of Human Ortholog: 22q13.2

Cellular Component: cytosol

Molecular Function: adenylosuccinate lyase activity

Biological Process: AMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; metabolic process; nucleobase, nucleoside and nucleotide metabolic process; purine nucleotide biosynthetic process; protein tetramerization; purine base metabolic process; 'de novo' IMP biosynthetic process

Disease: Adenylosuccinase Deficiency