GLGB_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
GBE1
Protein names and data:
GLGB_HUMAN
, 1,4-alpha-glucan-branching enzyme; 2.4.1.18
, Brancher enzyme; Glycogen-branching enzyme
Lenght: 702 a.a.
Mass: 80474 Da
fasta formatted sequence
Function:
Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.
Catalytic activity:
Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain.
Pathway:
Glycan biosynthesis; glycogen biosynthesis.
Disease:
( OMIM:
232500
263570
607839
)
Glycogen storage disease 4 (GSD4) [MIM:232500]: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Adult polyglucosan body disease (APBD) [MIM:263570]: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Highest levels found in liver and muscle.
Genetic variants
190 - 190
R -> G (in dbSNP:rs2229519). VAR_022109
2229519
224 - 224
L -> P (in GSD4; loss of activity). VAR_022429
257 - 257
F -> L (in GSD4; loss of activity). VAR_022430
265 - 265
T -> S (in dbSNP:rs17856389). VAR_034747
17856389
329 - 329
Y -> S (in GSD4; non-progressive form; 50% residual activity). VAR_022431
334 - 334
I -> V (in dbSNP:rs2172397). VAR_034748
2172397
507 - 507
T -> A (in dbSNP:rs2228389). VAR_034749
2228389
515 - 515
R -> C (in GSD4; loss of activity). VAR_022432
515 - 515
R -> H (in APBD). VAR_022433
524 - 524
R -> Q (in GSD4 and APBD). VAR_022434
545 - 545
H -> R (in GSD4). VAR_022435
628 - 628
H -> R (in GSD4; childhood neuromuscular form; 15 to 25% residual activity). VAR_022436
Database cross-references
UniProt:
Q04446
Ensembl:
ENST00000429644
MIM:
232500
MIM:
263570
MIM:
607839
neXtProt:
NX_Q04446
Antibodypedia:
Q04446
(may not find the protein thus also not any antibody)
Local full text data:
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