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MGP001168

Record overview

MGPD IDMGP001168
Gene ID2632
SpeciesHomo sapiens (Human)
Gene Nameglucan (1,4-alpha-), branching enzyme 1
Gene Symbol GBE1
SynonymsGBE; APBD; GSD4;
Alternate names1,4-alpha-glucan-branching enzyme; amylo-(1,4 to 1,6) transglucosidase; amylo-(1,4 to 1,6) transglycosylase; brancher enzyme; glycogen branching enzyme; glycogen-branching enzyme;
Chromosome3
Map Location3p12.3
EC Number2.4.1.18
SummaryThe 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 Andersen's disease). [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for GBE1

Proteins

1,4-alpha-glucan-branching enzyme
Refseq ID:NP_000149
Protein GI:189458812
UniProt ID:Q04446
mRNA ID:NM_000158
Length:702
RefSeq Status:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFL
TGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIY
ESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
NMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEVLRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLV
HTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMY
TNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAP
QAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDL
PN
 
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