Gene: GMPPB

Alternate names for this Gene: LGMDR19|MDDGA14|MDDGB14|MDDGC14

Gene Summary: This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: GDP-mannose pyrophosphorylase B

Type of Gene: protein-coding

rs142336618 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 24780531 2014 Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

rs142336618 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

PMID 24780531 2014 Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

rs142336618 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 28433477 2017 Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

PMID 24780531 2014 Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

rs397509425 in GMPPB gene and Multiple congenital anomalies PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 19901254 2009 Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs142336618 in GMPPB gene and Muscular Dystrophy PMID 27147698 2016 Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 27527004 2016 iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.