| 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. |
| Protein length : |
732 amino acids |
| Molecular Weight : |
106.630kDa inclusive of tags |
| Source : |
Wheat germ |
| Tissue specificity : |
Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta. |
| Form : |
Liquid |
| Purity : |
Proprietary Purification |
| Storage buffer : |
pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
| Sequences of amino acids : |
DSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTV KVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDL VVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWP DKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQ DNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAV DEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFG NYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQ PTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVF FDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCD YYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWS NFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYL IKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMTLQREK DSPTPETFQMLSPPKGVFMYISNRHEFGRLLSTANYNTSH YNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDV FWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYEN VPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKG FALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDF QGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKN GTRYIAVSFIDP |
| Sequence Similarities : |
Contains 1 Fe2OG dioxygenase domain. |
