ADSL recombinant protein

ADSL, 1-484aa, Human, His tag, E Coli

Cat. Num. AAA204477

• Gene Names: ADSL; ASL; AMPS; ASASE
• Applications: SDS-Page
• Purity: > 95% by SDS-PAGE
• Synonyms: ADSL; 1-484aa; Human; His tag; E Coli; Adenylosuccinate lyase; AMPS; ASASE; ASL; ADSL recombinant protein

• Host: E Coli
• Purity/Purification: > 95% by SDS-PAGE
• Form/Format: Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 1mM DTT, 40% glycerol, 0.1M NaCl
• Concentration: 1 mg/ml (determined by Bradford assay) (varies by lot)
• 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

• Applicable Applications for ADSL recombinant protein: SDS-PAGE
• Antigen Species: Human
• Tag Information: His-tag
• Preparation and Storage: Can be stored at 4 degree C short term (1-2 weeks).; For long term storage, aliquot and store at -20 degree C or -70 degree C.; Avoid repeated freezing and thawing cycles.

SDS-Page

Related Product Information for ADSL recombinant protein

Adenylosuccinate lyase, also known as ADSL, is an enzyme that converts adenylosuccinate to AMP and fumarate as part of the purine nucleotide cycle. 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). Recombinant human ADSL protein, fused to His-tag at N-terminus, was expressed in E Coli and purified by using conventional chromatography techniques.

Product Categories/Family for ADSL recombinant protein

Metabolism

References

Marie S., et al. (2002) Am J Hum Genet. 71:14-21.; Kmoch S., et al. (2000) Hum Mal Genet. 9:1501-1513.

NCBI and Uniprot Product Information

• NCBI GI #: 4557269
• NCBI GeneID: 158
• NCBI Accession #: NP_000017
• NCBI GenBank Nucleotide #: NM_000026.3
• UniProt Accession #: P30566; O75495; Q5TI34; B0QY76
• Molecular Weight: 59 kDa (520aa)
• 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

Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.