| Description : |
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. |
| Source : |
In Vitro Cell Free System |
| Species : |
Human |
| Form : |
Liquid |
| Molecular Mass : |
106.630kDa inclusive of tags |
| Protein Length : |
732 amino acids |
| AA Sequence : |
DSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTV KVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDL VVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWP DKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQ DNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAV DEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFG NYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQ PTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVF FDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCD YYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWS NFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYL IKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMTLQREK DSPTPETFQMLSPPKGVFMYISNRHEFGRLLSTANYNTSH YNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDV FWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYEN VPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKG FALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDF QGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKN GTRYIAVSFIDP |
| Purity : |
Proprietary Purification |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles. |
| Storage Buffer : |
pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione. |
