Recombinant Full Length Human GBE1 Protein

• Cat.No.: GBE1-187HF
• Product Overview: Recombinant full length Human GBE1 with a N terminal proprietary tag: predicted molecular weight 103.29 kDa.

Specification

• Species: Human
• Source: In Vitro Cell Free System
• Protein Length: 702 amino acids
• Description: The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersens disease).
• Form: Liquid
• Molecular Mass: 103.290kDa inclusive of tags
• AA Sequence: MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKP YAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHR CADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYG KWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPW AKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIY ESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAI MEHAYYASFGYQITSFFAASSRYGSPEELQELVDTAHSMG IIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHD LWDSRLFAYSSWEVLRFLLSNIRWWLEEYRFDGFRFDGVT SMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLV HTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIP DKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESH DQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLH KMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESY HYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAP QAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGT ALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRP YSLLVYIPSRVALILQNVDLPN
• 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.

Gene Information

• Gene Name: GBE1 glucan (1,4-alpha-), branching enzyme 1 [ Homo sapiens ]
• Official Symbol: GBE1
• Synonyms: GBE1; glucan (1,4-alpha-), branching enzyme 1; 1,4-alpha-glucan-branching enzyme; Andersen disease; glycogen branching enzyme; glycogen storage disease type IV
• Gene ID: 2632
• mRNA Refseq: NM_000158
• Protein Refseq: NP_000149
• MIM: 607839
• UniProt ID: Q04446