| 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 : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
87.1 kDa |
| AA Sequence : |
MGGCTVKPQLLLLALVLHPWNPCLG ADSEKPSSIPTDKLLVITVATKESD GFHRFMQSAKYFNYTVKVLGQGEEW RGGDGINSIGGGQKVRLMKEVMEHY ADQDDLVVMFTECFDVIFAGGPEEV LKKFQKANHKVVFAADGILWPDKRL ADKYPVVHIGKRYLNSGGFIGYAPY VNRIVQQWNLQDNDDDQLFYTKVYI DPLKREAINITLDHKCKIFQTLNGA VDEVVLKFENGKARAKNTFYETLPV AINGNGPTKILLNYFGNYVPNSWTQ DNGCTLCEFDTVDLSAVDVHPNVSI GVFIEQPTPFLPRFLDILLTLDYPK EALKLFIHNKEVYHEKDIKVFFDKA KHEIKTIKIVGPEENLSQAEARNMG MDFCRQDEKCDYYFSVDADVVLTNP RTLKILIEQNRKIIAPLVTRHGKLW SNFWGALSPDGYYARSEDYVDIVQG NRVGVWNVPYMANVYLIKGKTLRSE MNERNYFVRDKLDPDMALCRNAREM TLQREKDSPTPETFQMLSPPKGVFM YISNRHEFGRLLSTANYNTSHYNND LWQIFENPVDWKEKYINRDYSKIFT ENIVEQPCPDVFWFPIFSEKACDEL VEEMEHYGKWSGGKHHDSRISGGYE NVPTDDIHMKQVDLENVWLHFIREF IAPVTLKVFAGYYTKGFALLNFVVK YSPERQRSLRPHHDASTFTINIALN NVGEDFQGGGCKFLRYNCSIESPRK GWSFMHPGRLTHLHEGLPVKNGTRY IAVSFIDPTRTRPLEQKLISEEDLA ANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
