Human ADSL Recombinant Protein (RPPB1361)
- SKU:
- RPPB1361
- Product type:
- Recombinant Protein
- Size:
- 20ug
- Species:
- Human
- Target:
- ADSL
- Synonyms:
- Adenylosuccinate lyase
- ASL
- Adenylosuccinase
- ASase
- Source:
- Escherichia Coli
- Uniprot:
- P30566
Description
| Product Name: | Human ADSL Recombinant Protein |
| Product Code: | RPPB1361 |
| Size: | 20µg |
| Species: | Human |
| Target: | ADSL |
| Synonyms: | Adenylosuccinate lyase, ASL, Adenylosuccinase, ASase, ADSL, AMPS. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The ADSL solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 1mM DTT, 40% glycerol and 0.1M NaCl. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°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. |
| Purity: | Greater than 95.0% as determined by SDS-PAGE. |
| Amino Acid 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 |
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.
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.
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:EC 4.3.2.2; Amino Acid Metabolism - alanine, aspartate and glutamate; Nucleotide Metabolism - purine; Lyase 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 |
| NCBI Summary: | 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 Code: | P30566 |
| NCBI GenInfo Identifier: | 6686318 |
| NCBI Gene ID: | 158 |
| NCBI Accession: | P30566.2 |
| UniProt Secondary Accession: | P30566,O75495, Q5TI34, B0QY76, |
| UniProt Related Accession: | P30566 |
| Molecular Weight: | 484 |
| NCBI Full Name: | Adenylosuccinate lyase |
| NCBI 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 |
| UniProt Synonym Protein Names: | Adenylosuccinase; ASase |
| Protein Family: | Adenylosuccinate lyase |
| UniProt Gene Name: | ADSL |
| UniProt Entry Name: | PUR8_HUMAN |
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