ACY1, 1-408aa, Human

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01-1903-1
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Proteins, Recombinant
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Product Name ACY1, 1-408aa, Human
Background Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D). ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. Recombinant human ACY1 protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
Synonyms ACY1D, ACYLASE, Aminoacylase 1
Species Human
Amino Acid Sequence MGSSHHHHHH SSGLVPRGSH MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG GHQGMELFVQ RPEFHALRAG FALDEGIANP TDAFTVFYSE RSPWWVRVTS TGRPGHASRF MEDTAAEKLH KVVNSILAFR EKEWQRLQSN PHLKEGSVTS VNLTKLEGGV AYNVIPATMS ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV CKDMNLTLEP EIMPAATDNR YIRAVGVPAL GFSPMNRTPV LLHDHDERLH EAVFLRGVDI YTRLLPALAS VPALPSDS
Molecular Weight 11.9 kDa (104aa) confirmed by MALDI-TOF
Concentration 1 mg/ml (determined by Bradford assay)
Form Liquid, in 20mM Tris-HCl buffer (pH 8.0) containing, 10% glycerol
Purity > 90% by SDS-PAGE
Applications SDS-PAGE
NCBI Accession # NP_000657
Host E.coli
Storage Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.
Intended Use For Research Use Only
References Sass J.O., et al. (2006) Am. J. Hum. Genet. 78:401-409
Van Coster RN., et al. (2005) Biochem Biophys Res Commun. 338(3):1322-6

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