Property Summary

NCBI Gene PubMed Count 20
PubMed Score 13.02
PubTator Score 6.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.980 0.000
pancreatic ductal adenocarcinoma liver m... -1.249 0.001
pituitary cancer -1.200 0.000

Gene RIF (7)

PMID Text
26310427 We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development.
26133662 This study found mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases.
25681410 The phenotypic spectrum of GMPPB mutations was expanded to include limb-girdle muscular dystrophies.
24780531 Work confirms a role for GMPPB defects in alpha-dystroglycanopathy, and suggests that glycosylation may play a role in the neuronal membrane channels or networks involved in the physiology of generalized epilepsy syndromes.
23768512 Individuals with GMPPB mutations have hypoglycosylated alpha-dystroglycan in muscle. These mutations cause congenital and limb-girdle muscular dystrophies.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20307617 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQR      1 - 70
LGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEE     71 - 140
PSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAM    141 - 210
ELQGFWMDIGQPKDFLTGMCLFLQSLRQKQPERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVV    211 - 280
EDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIG    281 - 350
ESVPEPRIIM                                                                351 - 360
//

Text Mined References (23)

PMID Year Title
26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
25681410 2015 Expanding the phenotype of GMPPB mutations.
25416956 2014 A proteome-scale map of the human interactome network.
24780531 2014 Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
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