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Aliases for GNPTAB Gene

Aliases for GNPTAB Gene

  • N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits 2 3 5
  • UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • GlcNAc-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • Stealth Protein GNPTAB 3 4
  • GNPTA 3 4
  • Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase 3
  • N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits 2
  • N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3
  • UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine 3
  • GlcNAc Phosphotransferase 3
  • EC 2.7.8.17 4
  • KIAA1208 4
  • ICD 3

External Ids for GNPTAB Gene

Previous HGNC Symbols for GNPTAB Gene

  • GNPTA

Previous GeneCards Identifiers for GNPTAB Gene

  • GC12M100642
  • GC12M100663
  • GC12M102139
  • GC12M099198

Summaries for GNPTAB Gene

Entrez Gene Summary for GNPTAB Gene

  • This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

GeneCards Summary for GNPTAB Gene

GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits) is a Protein Coding gene. Diseases associated with GNPTAB include Mucolipidosis Iii Alpha/Beta and Mucolipidosis Ii Alpha/Beta. Among its related pathways are Lysosome. GO annotations related to this gene include calcium ion binding and transcription factor binding.

UniProtKB/Swiss-Prot for GNPTAB Gene

  • Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.

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

Genomics for GNPTAB Gene

Regulatory Elements for GNPTAB Gene

Enhancers for GNPTAB 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
GH12G101791 1.5 FANTOM5 Ensembl ENCODE 41.5 +38.0 37983 2.5 HDAC1 PKNOX1 ATF1 RAD21 TCF12 GATA2 JUNB SMARCA4 KLF16 PBX2 GNPTAB CHPT1 RNA5SP369 SYCP3 DRAM1 RNU6-172P RNA5SP368
GH12G101712 1.5 Ensembl ENCODE dbSUPER 26.3 +116.7 116665 3.7 HDGF FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 CBX5 SP5 GNPTAB CHPT1 SYCP3 RNU6-101P RNA5SP369 GC12P101721
GH12G101888 1.6 FANTOM5 Ensembl ENCODE 24.1 -60.4 -60410 5.1 HDGF FOXA2 ATF1 MLX ARID4B FEZF1 ZNF48 FOS SP5 MXD4 DRAM1 GNPTAB CHPT1 RNA5SP369 RNU6-101P PIR46358
GH12G101907 1.5 Ensembl ENCODE dbSUPER 20.9 -78.2 -78153 2.6 FOXA2 PKNOX1 ATF1 MLX ARID4B FOS SP5 JUNB PPARG KAT8 GNPTAB RNA5SP369 SYCP3 DRAM1 CHPT1 PIR46358
GH12G101929 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -104.2 -104231 10.5 HDGF PKNOX1 ATF1 WRNIP1 FEZF1 GLIS2 GATA2 ZNF143 ZNF207 FOS GNPTAB WASHC3 IGF1 RNA5SP369 RNU6-101P SYCP3 DRAM1 CHPT1 RPL9P24 GC12P101929
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNPTAB on UCSC Golden Path with GeneCards custom track

Promoters for GNPTAB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000056319 438 1801 ARNT WRNIP1 ARID4B SIN3A ZNF121 GTF3C2 ZNF143 SP3 SP5 REST

Genomic Location for GNPTAB Gene

Chromosome:
12
Start:
101,745,497 bp from pter
End:
101,830,938 bp from pter
Size:
85,442 bases
Orientation:
Minus strand

Genomic View for GNPTAB Gene

Genes around GNPTAB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GNPTAB Gene

Proteins for GNPTAB Gene

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

    Protein Symbol:
    Q3T906-GNPTA_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Protein Accession:
    Q3T906
    Secondary Accessions:
    • A2RRQ9
    • Q3ZQK2
    • Q6IPW5
    • Q86TQ2
    • Q96N13
    • Q9ULL2

    Protein attributes for GNPTAB Gene

    Size:
    1256 amino acids
    Molecular mass:
    143622 Da
    Quaternary structure:
    • Hexamer of two alpha, two beta and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits.
    Miscellaneous:
    • Due to the low pH in the endosomal/prelysosomal compartment, the lysosomal enzyme-MPR complex dissociates and then the enzyme is delivered to the lysosome. Between 5% and 20% of newly synthesized lysosomal enzymes escape the binding to the MPR in the Golgi apparatus and are secreted.
    • Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes. Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth proteins are predicted to function as hexose-1-phosphoryltransferases.

    Three dimensional structures from OCA and Proteopedia for GNPTAB Gene

    Alternative splice isoforms for GNPTAB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNPTAB Gene

Post-translational modifications for GNPTAB Gene

  • The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-928-Asp-929 bond.
  • Glycosylation at isoforms=283, isoforms=2114, isoforms=2148, isoforms=2179, posLast=250250, posLast=614614, isoforms=699, isoforms=729, posLast=759759, isoforms=782, isoforms=789, isoforms=813, posLast=829829, isoforms=844, posLast=873873, isoforms=1009, posLast=10981098, and isoforms=1129
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GNPTAB Gene

Domains & Families for GNPTAB Gene

Gene Families for GNPTAB Gene

Suggested Antigen Peptide Sequences for GNPTAB Gene

Graphical View of Domain Structure for InterPro Entry

Q3T906

UniProtKB/Swiss-Prot:

GNPTA_HUMAN :
  • The DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
  • Belongs to the stealth family.
Domain:
  • The DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
Family:
  • Belongs to the stealth family.
genes like me logo Genes that share domains with GNPTAB: view

Function for GNPTAB Gene

Molecular function for GNPTAB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.

Enzyme Numbers (IUBMB) for GNPTAB Gene

Gene Ontology (GO) - Molecular Function for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IMP 25505245
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups IEA --
genes like me logo Genes that share ontologies with GNPTAB: view
genes like me logo Genes that share phenotypes with GNPTAB: view

Human Phenotype Ontology for GNPTAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNPTAB Gene

MGI Knock Outs for GNPTAB:

Animal Model Products

  • Taconic Biosciences Mouse Models for GNPTAB

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for GNPTAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPTAB Gene

N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane; Single-pass type I membrane protein.
N-acetylglucosamine-1-phosphotransferase subunit beta: Golgi apparatus membrane; Single-pass type II membrane protein.

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 GNPTAB gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
lysosome 2
extracellular 1
peroxisome 1
nucleus 1
endosome 1

Gene Ontology (GO) - Cellular Components for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 23733939
GO:0005794 Golgi apparatus IEA,IDA 21719679
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GNPTAB: view

Pathways & Interactions for GNPTAB Gene

SuperPathways for GNPTAB Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with GNPTAB: view

Pathways by source for GNPTAB Gene

1 KEGG pathway for GNPTAB Gene

Gene Ontology (GO) - Biological Process for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007040 lysosome organization IMP 21719679
GO:0009306 protein secretion IEA --
GO:0016256 N-glycan processing to lysosome IMP 19938078
GO:0033299 secretion of lysosomal enzymes IEA --
GO:0046835 carbohydrate phosphorylation IDA 19955174
genes like me logo Genes that share ontologies with GNPTAB: view

No data available for SIGNOR curated interactions for GNPTAB Gene

Drugs & Compounds for GNPTAB Gene

(1) Drugs for GNPTAB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Monophosphate Experimental Pharma 0

(7) Additional Compounds for GNPTAB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GNPTAB: view

Transcripts for GNPTAB Gene

Unigene Clusters for GNPTAB Gene

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for GNPTAB Gene

GeneLoc Exon Structure for
GNPTAB
ECgene alternative splicing isoforms for
GNPTAB

Expression for GNPTAB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNPTAB Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (50.7).

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



NURSA nuclear receptor signaling pathways regulating expression of GNPTAB Gene:

GNPTAB

SOURCE GeneReport for Unigene cluster for GNPTAB Gene:

Hs.46850

mRNA Expression by UniProt/SwissProt for GNPTAB Gene:

Q3T906-GNPTA_HUMAN
Tissue specificity: Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for GNPTAB Gene

  • Nervous system(4.8)
  • Liver(4.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • breast
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • liver
  • spleen
Pelvis:
  • pelvis
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
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GNPTAB: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for GNPTAB Gene

Orthologs for GNPTAB Gene

This gene was present in the common ancestor of animals.

Orthologs for GNPTAB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNPTAB 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia GNPTAB 34 35
  • 89.55 (n)
cow
(Bos Taurus)
Mammalia GNPTAB 34 35
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Gnptab 34 16 35
  • 84.75 (n)
rat
(Rattus norvegicus)
Mammalia Gnptab 34
  • 83.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTAB 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNPTAB 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNPTAB 34 35
  • 76.02 (n)
lizard
(Anolis carolinensis)
Reptilia GNPTAB 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptab 34
  • 67.75 (n)
zebrafish
(Danio rerio)
Actinopterygii gnptab 34 35
  • 65.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8027 35
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
Species where no ortholog for GNPTAB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GNPTAB Gene

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

Paralogs for GNPTAB Gene

Pseudogenes.org Pseudogenes for GNPTAB Gene

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

No data available for Paralogs for GNPTAB Gene

Variants for GNPTAB Gene

Sequence variations from dbSNP and Humsavar for GNPTAB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs137852895 Pathogenic, Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] 101,770,085(-) AAATG(A/C/G)TGATG reference, missense, utr-variant-5-prime
rs137852900 Pathogenic, Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600], Mucolipidosis type II (MLII) [MIM:252500] 101,770,185(-) ATGTT(C/T)TTCGA reference, missense, utr-variant-5-prime
rs138390866 Pathogenic, Mucolipidosis type II (MLII) [MIM:252500] 101,761,615(+) TGTGA(A/G)CAGGG reference, missense
rs281864947 Pathogenic, Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] 101,830,632(-) CCTGT(A/C)CCACA reference, missense, utr-variant-5-prime
rs281864953 Pathogenic, Mucolipidosis type II (MLII) [MIM:252500] 101,790,019(-) CACCT(G/T)GGTGA reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2615882 CNV insertion 19546169
esv3310570 CNV novel sequence insertion 20981092
esv3401797 CNV duplication 20981092
nsv560030 CNV gain 21841781
nsv832497 CNV gain 17160897
nsv861 CNV insertion 18451855
nsv973110 CNV duplication 23825009

Variation tolerance for GNPTAB Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNPTAB Gene

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

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

Disorders for GNPTAB Gene

MalaCards: The human disease database

(12) MalaCards diseases for GNPTAB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucolipidosis iii alpha/beta
  • mucolipidosis iiia
mucolipidosis ii alpha/beta
  • i-cell disease
mucopolysaccharidisis type iiia
  • mucopolysaccharidosis, type iiia
gnptab-related mucolipidoses
mucolipidoses
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GNPTA_HUMAN
  • Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269 PubMed:16200072, ECO:0000269 PubMed:16835905, ECO:0000269 PubMed:19197337, ECO:0000269 PubMed:19617216, ECO:0000269 PubMed:19634183, ECO:0000269 PubMed:19938078, ECO:0000269 PubMed:22495880, ECO:0000269 PubMed:23566849, ECO:0000269 PubMed:23733939, ECO:0000269 PubMed:23773965, ECO:0000269 PubMed:24375680, ECO:0000269 PubMed:24798265, ECO:0000269 PubMed:25505245, ECO:0000269 PubMed:25788519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. {ECO:0000269 PubMed:16094673, ECO:0000269 PubMed:16465621, ECO:0000269 PubMed:16630736, ECO:0000269 PubMed:17034777, ECO:0000269 PubMed:19197337, ECO:0000269 PubMed:19617216, ECO:0000269 PubMed:19634183, ECO:0000269 PubMed:19938078, ECO:0000269 PubMed:23566849, ECO:0000269 PubMed:24045841, ECO:0000269 PubMed:24375680, ECO:0000269 PubMed:24550498, ECO:0000269 PubMed:25505245, ECO:0000269 PubMed:25788519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variations in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269 PubMed:20147709}.

Relevant External Links for GNPTAB

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

No data available for Genatlas for GNPTAB Gene

Publications for GNPTAB Gene

  1. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. (PMID: 19197337) Otomo T. … Sakai N. (J. Hum. Genet. 2009) 3 4 22 46 64
  2. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. (PMID: 19617216) Cathey S.S. … Friez M.J. (J. Med. Genet. 2010) 3 4 46 64
  3. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C. … Drayna D. (N. Engl. J. Med. 2010) 3 4 22 64
  4. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1- phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. (PMID: 19634183) Tappino B. … Filocamo M. (Hum. Mutat. 2009) 3 4 22 64
  5. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. (PMID: 19938078) Zarghooni M. … Dittakavi S.S. (Am. J. Med. Genet. A 2009) 3 4 22 64

Products for GNPTAB Gene

Sources for GNPTAB Gene

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