GBE1 (Entrez ID: 2632)

Entrez Gene ID	2632
Official Gene Symbol	GBE1 (GeneCards)
Full name	1,4-alpha-glucan branching enzyme 1
Location	3p12.2
Other ids	Vega : OTTHUMG00000158978 MIM : 607839 HGNC : HGNC:4180 Ensembl : ENSG00000114480
Other names	GBE, APBD, GSD4
Summary	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 Andersen's disease). [provided by RefSeq, Jul 2008]

Variants

Found 25 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
4726	2632	GBE1	3	81866254	81866254	Asymptomatic	HiSeq 2000
4792	2632	GBE1	3	83429257	83429257	Asymptomatic	HiSeq 2000 HiSeq X Ten
4830	2632	GBE1	3	82876488	82876488	Asymptomatic	HiSeq 2000 HiSeq X Ten
4867	2632	GBE1	3	82969362	82969362	Asymptomatic	HiSeq 2000 HiSeq X Ten
4970	2632	GBE1	3	83540392	83540392	Asymptomatic	HiSeq 2000 HiSeq X Ten
5001	2632	GBE1	3	83693496	83693496	Asymptomatic	HiSeq 2000 HiSeq X Ten
5234	2632	GBE1	3	82753543	82753543		HiSeq 2000 HiSeq X Ten
5407	2632	GBE1	3	83118070	83118070	Asymptomatic	HiSeq 2000 HiSeq X Ten
5645	2632	GBE1	3	82223815	82223815	Asymptomatic	HiSeq 2000 HiSeq X Ten
5675	2632	GBE1	3	83499972	83499972	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
5777	2632	GBE1	3	83791407	83791407	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
5789	2632	GBE1	3	83397054	83397054	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
5790	2632	GBE1	3	83737807	83737807	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
5819	2632	GBE1	3	82112865	82112865	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
5950	2632	GBE1	3	81977430	81977430	Xeroderma Pigmentosum	HiSeq 2000 HiSeq X Ten
22699	2632	GBE1	3	83864897	83864897	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
22729	2632	GBE1	3	81738642	81738642	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
22730	2632	GBE1	3	82929459	82929459	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
22731	2632	GBE1	3	83561981	83561981	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
25227	2632	GBE1	3	81862319	81862319	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
25228	2632	GBE1	3	83801993	83801993	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
25251	2632	GBE1	3	83801993	83801993	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
25302	2632	GBE1	3	82967259	82967259	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
25333	2632	GBE1	3	82321512	82321512	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
25334	2632	GBE1	3	82764436	82764436	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning