Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GMPPB Gene

Aliases for GMPPB Gene

  • GDP-Mannose Pyrophosphorylase B 2 3 4 5
  • GTP-Mannose-1-Phosphate Guanylyltransferase Beta 3 4
  • Mannose-1-Phosphate Guanyltransferase Beta 2 3
  • EC 2.7.7.13 4
  • MDDGA14 3
  • MDDGB14 3
  • MDDGC14 3

External Ids for GMPPB Gene

Previous GeneCards Identifiers for GMPPB Gene

  • GC03P046353
  • GC03P048643
  • GC03M049611
  • GC03M049717
  • GC03M049733
  • GC03M049754

Summaries for GMPPB Gene

Entrez Gene Summary for GMPPB Gene

  • 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. [provided by RefSeq, Jan 2009]

GeneCards Summary for GMPPB Gene

GMPPB (GDP-Mannose Pyrophosphorylase B) is a Protein Coding gene. Diseases associated with GMPPB include Muscular Dystrophy-Dystroglycanopathy , Type C, 14 and Muscular Dystrophy-Dystroglycanopathy , Type A, 14. Among its related pathways are Fructose and mannose metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and mannose-1-phosphate guanylyltransferase activity. An important paralog of this gene is GMPPA.

UniProtKB/Swiss-Prot for GMPPB Gene

  • Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.

Gene Wiki entry for GMPPB Gene

Additional gene information for GMPPB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GMPPB Gene

Genomics for GMPPB Gene

GeneHancer (GH) Regulatory Elements for GMPPB Gene

Promoters and enhancers for GMPPB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J049721 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.1 -99 4.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 GC03M049731 GC03M049732 GC03P049723 GMPPB PIR51040 PIR59970 INKA1 AMT PHF5EP IP6K1
GH03J050598 Promoter/Enhancer 3.2 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -882.5 -882513 15 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC CISH MAPKAPK3 RBM5 RBM6 TMEM115 HEMK1 RAD54L2 SEMA3F-AS1 C3orf18 DCAF1
GH03J049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 +377.9 377924 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A USP4 AMT QRICH1 RBM6 RBM5 IP6K2 ATRIP USP19 WDR6 BSN-AS1
GH03J049686 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.6 +35.6 35626 4.2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MST1 PIR39139 RNF123 AMT RBM6 QRICH1 CDHR4 AMIGO3 GMPPB IMPDH2
GH03J049428 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.5 +294.5 294486 1.8 PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 POLR2B ENSG00000283189 NICN1 AMT QRICH1 USP19 TMEM115 WDR6 QARS ATRIP IP6K2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GMPPB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GMPPB gene promoter:
  • POU2F1
  • MIF-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for GMPPB Gene

Genomic Locations for GMPPB Gene
chr3:49,716,844-49,723,974
(GRCh38/hg38)
Size:
7,131 bases
Orientation:
Minus strand
chr3:49,754,277-49,761,384
(GRCh37/hg19)
Size:
7,108 bases
Orientation:
Minus strand

Genomic View for GMPPB Gene

Genes around GMPPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMPPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMPPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMPPB Gene

Proteins for GMPPB Gene

  • Protein details for GMPPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5P6-GMPPB_HUMAN
    Recommended name:
    Mannose-1-phosphate guanyltransferase beta
    Protein Accession:
    Q9Y5P6
    Secondary Accessions:
    • A8K6N5
    • Q9H7U3

    Protein attributes for GMPPB Gene

    Size:
    360 amino acids
    Molecular mass:
    39834 Da
    Quaternary structure:
    • Associates with GMPPA.

    Alternative splice isoforms for GMPPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GMPPB Gene

Post-translational modifications for GMPPB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GMPPB Gene

No data available for DME Specific Peptides for GMPPB Gene

Domains & Families for GMPPB Gene

Gene Families for GMPPB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GMPPB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5P6

UniProtKB/Swiss-Prot:

GMPPB_HUMAN :
  • Belongs to the transferase hexapeptide repeat family.
Family:
  • Belongs to the transferase hexapeptide repeat family.
genes like me logo Genes that share domains with GMPPB: view

Function for GMPPB Gene

Molecular function for GMPPB Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.

Enzyme Numbers (IUBMB) for GMPPB Gene

Phenotypes From GWAS Catalog for GMPPB Gene

Gene Ontology (GO) - Molecular Function for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004475 mannose-1-phosphate guanylyltransferase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with GMPPB: view
genes like me logo Genes that share phenotypes with GMPPB: view

Human Phenotype Ontology for GMPPB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GMPPB

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPPB

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GMPPB Gene

Localization for GMPPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GMPPB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GMPPB gene
Compartment Confidence
extracellular 5
mitochondrion 4
cytosol 3
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 23768512
GO:0005739 mitochondrion IEA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with GMPPB: view

Pathways & Interactions for GMPPB Gene

genes like me logo Genes that share pathways with GMPPB: view

UniProtKB/Swiss-Prot Q9Y5P6-GMPPB_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.

Gene Ontology (GO) - Biological Process for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
GO:0009298 GDP-mannose biosynthetic process IMP 26310427
genes like me logo Genes that share ontologies with GMPPB: view

No data available for SIGNOR curated interactions for GMPPB Gene

Drugs & Compounds for GMPPB Gene

(3) Drugs for GMPPB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Mannose 1-phosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for GMPPB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Guanosine diphosphate mannose
  • GDP-D-Mannose
  • GDPmannose
  • Guanosine 5'-(trihydrogen diphosphate), mono-alpha-D-mannopyranosyl ester
  • Guanosine diphosphomannose
  • Guanosine pyrophosphate mannose
3123-67-9
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with GMPPB: view

Transcripts for GMPPB Gene

mRNA/cDNA for GMPPB Gene

Unigene Clusters for GMPPB Gene

GDP-mannose pyrophosphorylase B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPPB

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GMPPB Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for GMPPB Gene

GeneLoc Exon Structure for
GMPPB
ECgene alternative splicing isoforms for
GMPPB

Expression for GMPPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GMPPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GMPPB Gene

This gene is overexpressed in Skin (9.3) and Salivary gland (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GMPPB Gene



Protein tissue co-expression partners for GMPPB Gene

NURSA nuclear receptor signaling pathways regulating expression of GMPPB Gene:

GMPPB

SOURCE GeneReport for Unigene cluster for GMPPB Gene:

Hs.567488

Evidence on tissue expression from TISSUES for GMPPB Gene

  • Nervous system(4.4)
  • Eye(4.2)
  • Liver(4.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GMPPB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GMPPB: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GMPPB Gene

Orthologs for GMPPB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GMPPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GMPPB 34 33
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GMPPB 34 33
  • 91.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gmppb 16 34 33
  • 90.46 (n)
rat
(Rattus norvegicus)
Mammalia Gmppb 33
  • 90.09 (n)
cow
(Bos Taurus)
Mammalia GMPPB 34 33
  • 89.81 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GMPPB 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves GMPPB 34 33
  • 77.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GMPPB 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmppb 33
  • 74.91 (n)
Str.16262 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5745 33
zebrafish
(Danio rerio)
Actinopterygii gmppb 34 33
  • 73.52 (n)
OneToOne
wufc79b10 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001299 33
  • 69.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1129 34 35 33
  • 66.11 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-335 34 33
  • 59.7 (n)
OneToOne
C42C1.5 35
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR599W 33
  • 60.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSA1 36 34 33
  • 57.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05435g 33
  • 56.02 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CYT1 33
  • 59.63 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7390 33
rice
(Oryza sativa)
Liliopsida Os03g0268400 33
  • 64.72 (n)
Os.43951 33
corn
(Zea mays)
Liliopsida Zm.6307 33
wheat
(Triticum aestivum)
Liliopsida Ta.6794 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9806 34
  • 71 (a)
OneToOne
Cin.10300 33
bread mold
(Neurospora crassa)
Ascomycetes NCU11213 33
  • 63.33 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mpg1 33
  • 59.17 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10300 33
Species where no ortholog for GMPPB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GMPPB Gene

ENSEMBL:
Gene Tree for GMPPB (if available)
TreeFam:
Gene Tree for GMPPB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GMPPB: view image

Paralogs for GMPPB Gene

Paralogs for GMPPB Gene

(1) SIMAP similar genes for GMPPB Gene using alignment to 1 proteins:

  • GMPPB_HUMAN
genes like me logo Genes that share paralogs with GMPPB: view

Variants for GMPPB Gene

Sequence variations from dbSNP and Humsavar for GMPPB Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1060499721 uncertain-significance, Global developmental delay 49,722,628(-) T/C coding_sequence_variant, missense_variant
rs11547261 benign, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 49,723,044(-) G/A coding_sequence_variant, synonymous_variant
rs141201072 uncertain-significance, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 49,723,043(-) C/T coding_sequence_variant, missense_variant
rs142336618 pathogenic, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14, Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] 49,723,648(-) C/G coding_sequence_variant, missense_variant
rs142908436 pathogenic, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14, Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] 49,722,057(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GMPPB Gene

Variant ID Type Subtype PubMed ID
nsv508217 CNV deletion 20534489

Variation tolerance for GMPPB Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GMPPB Gene

Human Gene Mutation Database (HGMD)
GMPPB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GMPPB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMPPB Gene

Disorders for GMPPB Gene

MalaCards: The human disease database

(21) MalaCards diseases for GMPPB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

GMPPB_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. {ECO:0000269 PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. {ECO:0000269 PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. {ECO:0000269 PubMed:23768512, ECO:0000269 PubMed:26310427, ECO:0000269 PubMed:28433477, ECO:0000269 PubMed:28478914}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GMPPB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GMPPB: view

No data available for Genatlas for GMPPB Gene

Publications for GMPPB Gene

  1. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. (PMID: 28433477) Luo S … Zhao C (Neuromuscular disorders : NMD 2017) 3 4 58
  2. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. (PMID: 28478914) Balcin H … Udd B (Neuromuscular disorders : NMD 2017) 3 4 58
  3. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. (PMID: 26310427) Jensen BS … Mathews KD (Human mutation 2015) 3 4 58
  4. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. (PMID: 23768512) Carss KJ … Muntoni F (American journal of human genetics 2013) 3 4 58
  5. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PMID: 20307617) Morgan AR … Ferguson LR (Human immunology 2010) 3 44 58

Products for GMPPB Gene

Sources for GMPPB Gene

Content
Loading form....