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Aliases for PMM2 Gene

Aliases for PMM2 Gene

  • Phosphomannomutase 2 2 3 5
  • Mannose-6-Phosphate Isomerase 2 3
  • Phosphomannose Isomerase 1 2 3
  • EC 5.4.2.8 4 61
  • PMM 2 3 4
  • CDG1a 3
  • PMI1 3
  • CDGS 3
  • CDG1 3
  • PMI 3

External Ids for PMM2 Gene

Previous HGNC Symbols for PMM2 Gene

  • CDG1

Previous GeneCards Identifiers for PMM2 Gene

  • GC16P008695
  • GC16P008991
  • GC16P008858
  • GC16P008799
  • GC16P008885

Summaries for PMM2 Gene

Entrez Gene Summary for PMM2 Gene

  • The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

GeneCards Summary for PMM2 Gene

PMM2 (Phosphomannomutase 2) is a Protein Coding gene. Diseases associated with PMM2 include Congenital Disorder Of Glycosylation, Type Ia and Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Transport to the Golgi and subsequent modification. GO annotations related to this gene include phosphomannomutase activity. An important paralog of this gene is PMM1.

UniProtKB/Swiss-Prot for PMM2 Gene

  • Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Gene Wiki entry for PMM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMM2 Gene

Genomics for PMM2 Gene

Regulatory Elements for PMM2 Gene

Enhancers for PMM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G008621 1.3 ENCODE dbSUPER 11.1 -166.7 -166663 2.2 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GTF3C2 SP3 METTL22 ENSG00000260349 PMM2 ENSG00000263244 GC16M008655
GH16G008182 1.3 FANTOM5 ENCODE 11.1 -605.6 -605603 0.8 HNRNPUL1 PKNOX1 ATF1 CREB3L1 ARNT E2F7 TCF12 GTF3C2 ZNF766 CBX5 ENSG00000260349 PMM2 ENSG00000263244 GC16P008115 PIR47590
GH16G008858 1.7 Ensembl ENCODE dbSUPER 6.1 +75.7 75705 11.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ENSG00000260276 CARHSP1 PMM2 GC16P008857
GH16G008847 1.5 Ensembl ENCODE dbSUPER 6.4 +60.6 60634 3.5 PKNOX1 MLX ARID4B ZNF48 YY1 TCF12 ZNF121 FOS PAF1 SP5 ENSG00000260276 CARHSP1 PMM2 PIR52659 ENSG00000260350
GH16G008829 1 ENCODE dbSUPER 5.8 +42.7 42748 3.2 FOXA2 TEAD4 MAX RBBP5 CHD7 RAD21 YY1 ETS1 POLR2A HNF4G ENSG00000260276 CARHSP1 PMM2 GC16M008818 PIR44126
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PMM2 on UCSC Golden Path with GeneCards custom track

Promoters for PMM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082995 87 1801 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A

Genomic Location for PMM2 Gene

Chromosome:
16
Start:
8,788,823 bp from pter
End:
8,855,197 bp from pter
Size:
66,375 bases
Orientation:
Plus strand

Genomic View for PMM2 Gene

Genes around PMM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMM2 Gene

Proteins for PMM2 Gene

  • Protein details for PMM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15305-PMM2_HUMAN
    Recommended name:
    Phosphomannomutase 2
    Protein Accession:
    O15305
    Secondary Accessions:
    • A8K672
    • B7Z6R0
    • D3DUF3

    Protein attributes for PMM2 Gene

    Size:
    246 amino acids
    Molecular mass:
    28082 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PMM2 Gene

    Alternative splice isoforms for PMM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMM2 Gene

Selected DME Specific Peptides for PMM2 Gene

O15305:
  • IQDLINYCLSYIA
  • NVSPIGR
  • KYDYVFPENGLVAY
  • RGTFIEFR
  • YKTIYFFGDKT
  • DGTLTAPRQKIT
  • KIGVVGGSDFEK
  • LFDVDGTLT
  • ISFDVFP
  • LTFSIGGQIS
  • GGNDHEI

Post-translational modifications for PMM2 Gene

  • Ubiquitination at posLast=202202
  • Modification sites at PhosphoSitePlus

Domains & Families for PMM2 Gene

Gene Families for PMM2 Gene

Protein Domains for PMM2 Gene

Graphical View of Domain Structure for InterPro Entry

O15305

UniProtKB/Swiss-Prot:

PMM2_HUMAN :
  • Belongs to the eukaryotic PMM family.
Family:
  • Belongs to the eukaryotic PMM family.
genes like me logo Genes that share domains with PMM2: view

Function for PMM2 Gene

Molecular function for PMM2 Gene

GENATLAS Biochemistry:
phosphomannomutase type 2,catalyzing the second step in the conversion of fructose-6P to GDP-mannose,expressed in liver,heart,pancreas,weakly in brain,involved in the glycosylation of glycoconjugates
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=16 uM for alpha-D-mannose 1-phosphate {ECO:0000269 PubMed:16540464}; KM=13.5 uM for alpha-D-glucose 1-phosphate {ECO:0000269 PubMed:16540464};
UniProtKB/Swiss-Prot CatalyticActivity:
Alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.
UniProtKB/Swiss-Prot Function:
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Enzyme Numbers (IUBMB) for PMM2 Gene

Gene Ontology (GO) - Molecular Function for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004615 phosphomannomutase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PMM2: view
genes like me logo Genes that share phenotypes with PMM2: view

Human Phenotype Ontology for PMM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PMM2 Gene

MGI Knock Outs for PMM2:

Animal Model Products

miRNA for PMM2 Gene

miRTarBase miRNAs that target PMM2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PMM2

No data available for Transcription Factor Targets and HOMER Transcription for PMM2 Gene

Localization for PMM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMM2 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 PMM2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
endoplasmic reticulum 2
golgi apparatus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0043025 neuronal cell body IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PMM2: view

Pathways & Interactions for PMM2 Gene

genes like me logo Genes that share pathways with PMM2: view

UniProtKB/Swiss-Prot O15305-PMM2_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.

Gene Ontology (GO) - Biological Process for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006013 mannose metabolic process IBA --
GO:0006486 protein glycosylation TAS 9140401
GO:0006487 protein N-linked glycosylation IBA --
GO:0009298 GDP-mannose biosynthetic process TAS,IEA --
GO:0045047 protein targeting to ER IBA --
genes like me logo Genes that share ontologies with PMM2: view

No data available for SIGNOR curated interactions for PMM2 Gene

Drugs & Compounds for PMM2 Gene

(2) Drugs for PMM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-D-Glucose 1,6-bisphosphate Experimental Pharma 0
D-Mannose 1-phosphate Experimental Pharma 0

(3) Additional Compounds for PMM2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Mannose 6-phosphate
  • alpha-D-Mannose-6-P
  • alpha-D-Mannose-6-phosphate
  • alpha-delta-Mannose-6-P
  • alpha-delta-Mannose-6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
genes like me logo Genes that share compounds with PMM2: view

Transcripts for PMM2 Gene

Unigene Clusters for PMM2 Gene

Phosphomannomutase 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PMM2

Alternative Splicing Database (ASD) splice patterns (SP) for PMM2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10:

Relevant External Links for PMM2 Gene

GeneLoc Exon Structure for
PMM2
ECgene alternative splicing isoforms for
PMM2

Expression for PMM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PMM2 Gene

This gene is overexpressed in Oral epithelium (7.9) and Salivary gland (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PMM2 Gene



Protein tissue co-expression partners for PMM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PMM2 Gene:

PMM2

SOURCE GeneReport for Unigene cluster for PMM2 Gene:

Hs.625732

Evidence on tissue expression from TISSUES for PMM2 Gene

  • Liver(4.5)
  • Pancreas(4.2)
  • Nervous system(3.6)
  • Intestine(3.1)
  • Skin(2.6)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PMM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
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
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PMM2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PMM2 Gene

Orthologs for PMM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PMM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMM2 34 35
  • 94.35 (n)
dog
(Canis familiaris)
Mammalia PMM2 34 35
  • 89.43 (n)
rat
(Rattus norvegicus)
Mammalia Pmm2 34
  • 88.01 (n)
mouse
(Mus musculus)
Mammalia Pmm2 34 16 35
  • 87.87 (n)
cow
(Bos Taurus)
Mammalia PMM2 34 35
  • 87.62 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PMM2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMM2 34 35
  • 77.28 (n)
lizard
(Anolis carolinensis)
Reptilia PMM2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmm1 34
  • 72.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.27399 34
zebrafish
(Danio rerio)
Actinopterygii pmm2 34 35
  • 70.14 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8332 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011353 34
  • 59.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10688 36 34 35
  • 59.08 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F52B11.2 34
  • 57.95 (n)
F52B11.2 36 35
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC53 34 35 37
  • 57.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05709g 34
  • 56.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR236W 34
  • 53.97 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PMM 34
  • 60.91 (n)
soybean
(Glycine max)
eudicotyledons Gma.3992 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6965 34
rice
(Oryza sativa)
Liliopsida Os04g0682300 34
  • 59.67 (n)
Os.8518 34
barley
(Hordeum vulgare)
Liliopsida Hv.3523 34
wheat
(Triticum aestivum)
Liliopsida Ta.29895 34
corn
(Zea mays)
Liliopsida Zm.7133 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmm1 34
  • 58.58 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02829 34
  • 55.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3780 34
Species where no ortholog for PMM2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PMM2 Gene

ENSEMBL:
Gene Tree for PMM2 (if available)
TreeFam:
Gene Tree for PMM2 (if available)

Paralogs for PMM2 Gene

Paralogs for PMM2 Gene

Pseudogenes.org Pseudogenes for PMM2 Gene

genes like me logo Genes that share paralogs with PMM2: view

Variants for PMM2 Gene

Sequence variations from dbSNP and Humsavar for PMM2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs104894526 Pathogenic, Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] 8,811,674(+) ATCTA(C/T)GGAAA reference, missense
rs104894527 Pathogenic, Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] 8,804,781(+) AATAC(G/T)ATTAT intron-variant, reference, missense
rs104894530 Pathogenic, Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] 8,811,080(+) CCAGG(C/G)GTACT reference, missense
rs104894531 Pathogenic, Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] 8,847,753(+) ACAGA(C/G)CCCAG reference, missense
rs104894532 other, Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065] 8,797,908(+) GCTCT(A/G)CCTCT upstream-variant-2KB, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PMM2 Gene

Variant ID Type Subtype PubMed ID
dgv341n27 CNV gain 19166990
dgv4906n54 CNV gain 21841781
esv1354772 CNV insertion 17803354
esv24810 CNV loss 19812545
esv27013 CNV gain 19812545
esv2763129 CNV gain 21179565
esv3307137 CNV mobile element insertion 20981092
esv3420459 CNV insertion 20981092
esv3432665 CNV insertion 20981092
esv3570287 CNV gain 25503493
esv3582005 CNV loss 25503493
esv3637841 CNV gain 21293372
esv3637845 CNV gain 21293372
esv3637846 CNV gain 21293372
esv3637849 CNV loss 21293372
esv3637850 CNV gain 21293372
nsv1036281 CNV gain 25217958
nsv1036523 CNV gain 25217958
nsv1043528 CNV gain 25217958
nsv1047172 CNV gain 25217958
nsv1134496 CNV deletion 24896259
nsv457394 CNV gain 19166990
nsv457398 CNV gain 19166990
nsv521109 CNV loss 19592680
nsv571424 CNV gain 21841781
nsv571427 CNV gain 21841781
nsv571428 CNV gain 21841781
nsv833135 CNV loss 17160897

Variation tolerance for PMM2 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMM2 Gene

Human Gene Mutation Database (HGMD)
PMM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMM2 Gene

Disorders for PMM2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PMM2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ia
  • pmm2-cdg
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
congenital disorder of glycosylation, type ie
  • congenital disorder of glycosylation, type iu
multiple congenital anomalies-hypotonia-seizures syndrome 3
  • glycosylphosphatidylinositol biosynthesis defect 7
congenital disorders of n-linked glycosylation and multiple pathway
  • cdg syndromes
- elite association - COSMIC cancer census association via MalaCards
Search PMM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PMM2_HUMAN
  • Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. {ECO:0000269 PubMed:10066032, ECO:0000269 PubMed:10527672, ECO:0000269 PubMed:10571956, ECO:0000269 PubMed:10602363, ECO:0000269 PubMed:10801058, ECO:0000269 PubMed:11058895, ECO:0000269 PubMed:11058896, ECO:0000269 PubMed:11350185, ECO:0000269 PubMed:12357336, ECO:0000269 PubMed:15844218, ECO:0000269 PubMed:17307006, ECO:0000269 PubMed:9140401, ECO:0000269 PubMed:9497260, ECO:0000269 PubMed:9781039}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PMM2

Genetic Association Database (GAD)
PMM2
Human Genome Epidemiology (HuGE) Navigator
PMM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMM2
genes like me logo Genes that share disorders with PMM2: view

No data available for Genatlas for PMM2 Gene

Publications for PMM2 Gene

  1. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). (PMID: 9140401) Matthijs G. … van Schaftingen E. (Nat. Genet. 1997) 2 3 4 22 64
  2. Characterization of two unusual truncating PMM2 mutations in two CDG- Ia patients. (PMID: 17307006) Schollen E. … Matthijs G. (Mol. Genet. Metab. 2007) 3 4 22 64
  3. A new insight into PMM2 mutations in the French population. (PMID: 15844218) Le Bizec C. … Seta N. (Hum. Mutat. 2005) 3 4 22 64
  4. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PMID: 12357336) Schollen E. … Matthijs G. (Eur. J. Hum. Genet. 2002) 3 4 22 64
  5. Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. (PMID: 11350185) Westphal V. … Freeze H.H. (Mol. Genet. Metab. 2001) 3 4 22 64

Products for PMM2 Gene

Sources for PMM2 Gene

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