Name :
Recombinant Human FUCA1 Protein (His Tag)
Biological Activity :
Background :
FUCA1 is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in FUCA1 gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.
Biological Activity :
Testing in progress
Expression Host :
Human
Source :
HEK293 Cells
Tag :
Protein Accession No. :
P04066
NCBI Gene ID :
Synonyms :
Synonyms :
fucosidase, alpha-L- 1, tissue
Amino Acid Sequence :
Molecular Weight :
The recombinant human FUCA1 consists of 446 amino acids and predicts a molecular mass of 51.9 KDa. It migrates as an approximately 57 KDa band in SDS-PAGE under reducing conditions.
Purity :
> 95 % as determined by SDS-PAGE
State of Matter :
Product Concentration :
Storage and Stability :
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
Endotoxin Level :
< 1.0 EU per μg of the protein as determined by the LAL method
Protein Construction :
A DNA sequence encoding the human FUCA1 (P04066) (Gln32-Lys466) was expressed with a polyhistidine tag at the C-terminus.
Buffer Solution :
Lyophilized from sterile PBS, pH 7.4.Please contact us for any concerns or special requirements. Normally 5 % – 8 % trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hardcopy of datasheet.
Shipping :
In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature.Bulk packages of recombinant proteins are provided as frozen liquid. They are shipped out with blue ice unless customers require otherwise.
Redissolution :
A hardcopy of datasheet with reconstitution instructions is sent along with the products. Please refer to it for detailed information.
Synonyms :
FUCA Protein, Human FUCA1 背景信息 FUCA1 is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in FUCA1 gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.
References & Citations :
Yang M, et al. (1993) A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient. Biochem Biophys Res Commun. 189(2):1063-8. Fukushima H, et al. (1991) Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase. J Inherit Metab Dis. 13(5):761-5. Kretz KA, et al. (1990) Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci. 1(3):177-80. (function(){if (!document.body) return;var js = “window[‘__CF$cv$params’]={r:’86b42e54ac80783d’,t:’MTcxMTU5Mjg0NS42MDEwMDA=’};_cpo=document.createElement(‘script’);_cpo.nonce=”,_cpo.src=’/cdn-cgi/challenge-platform/scripts/jsd/main.js’,document.getElementsByTagName(‘head’)[0].appendChild(_cpo);”;var _0xh = document.createElement(‘iframe’);_0xh.height = 1;_0xh.width = 1;_0xh.style.position = ‘absolute’;_0xh.style.top = 0;_0xh.style.left = 0;_0xh.style.border = ‘none’;_0xh.style.visibility = ‘hidden’;document.body.appendChild(_0xh);function handler() {var _0xi = _0xh.contentDocument || _0xh.contentWindow.document;if (_0xi) {var _0xj = _0xi.createElement(‘script’);_0xj.innerHTML = js;_0xi.getElementsByTagName(‘head’)[0].appendChild(_0xj);}}if (document.readyState !== ‘loading’) {handler();} else if (window.addEventListener) {document.addEventListener(‘DOMContentLoaded’, handler);} else {var prev = document.onreadystatechange || function () {};document.onreadystatechange = function (e) {prev(e);if (document.readyState !== ‘loading’) {document.onreadystatechange = prev;handler();}};}})();
MedChemExpress (MCE) recombinant proteins include: cytokines, enzymes, growth factors, hormones, receptors, transcription factors, antibody fragments, etc. They are often essential for supporting cell growth, stimulating cell signaling pathways, triggering or inhibiting cell differentiation; and are useful tools for elucidating protein structure and function, understanding disease onset and progression, and validating pharmaceutical targets. At MedChemExpress (MCE), we strive to provide products with only the highest quality. Protein identity, purity and biological activity are assured by our robust quality control and assurance procedures.
Related category websites: https://www.medchemexpress.com/recombinant-proteins.html
Popular product recommendations:
CTCF ProteinPurity & Documentation
CCT2 ProteinBiological Activity
Popular categories:
Ubiquitin-Like Protein FUBI
FGF-10