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CMT1A Gene(Genetic Locus)

Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia)

GCID:
GC00U922103
GIFtS:
6

Aliases for CMT1A Gene

Aliases for CMT1A Gene

  • Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia) 2

External Ids for CMT1A Gene

Previous GeneCards Identifiers for CMT1A Gene

  • GC17U990014

Summaries for CMT1A Gene

GeneCards Summary for CMT1A Gene

CMT1A (Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia)) is a Genetic Locus. Diseases associated with CMT1A include Charcot-Marie-Tooth Neuropathy.

Additional gene information for CMT1A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMT1A Gene

Genomics for CMT1A Gene

Genomic Location for CMT1A Gene

No location information available

Genomic View for CMT1A Gene


Cytogenetic band:
  • 17p13.1-q12 by HGNC

No data available for Regulatory Elements and RefSeq DNA sequence for CMT1A Gene

Proteins for CMT1A Gene

Post-translational modifications for CMT1A Gene

No Post-translational modifications

No data available for DME Specific Peptides for CMT1A Gene

Domains & Families for CMT1A Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CMT1A Gene

Function for CMT1A Gene

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for CMT1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CMT1A Gene

Localization for CMT1A Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CMT1A Gene

Pathways & Interactions for CMT1A Gene

SuperPathways for CMT1A Gene

No Data Available

Interacting Proteins for CMT1A Gene

Gene Ontology (GO) - Biological Process for CMT1A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CMT1A Gene

Drugs & Compounds for CMT1A Gene

(4) Drugs for CMT1A Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-des-dimethylaminotetracycline Pharma 9
HIV Protease Inhibitors Pharma 5613
Matrix Metalloproteinase Inhibitors Pharma 20
protease inhibitors Pharma 5614
genes like me logo Genes that share compounds with CMT1A: view

Transcripts for CMT1A Gene

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for CMT1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CMT1A Gene

No ASD Table

Relevant External Links for CMT1A Gene

ECgene alternative splicing isoforms for
CMT1A

No data available for mRNA/cDNA for CMT1A Gene

Expression for CMT1A Gene

NURSA nuclear receptor signaling pathways regulating expression of CMT1A Gene:

CMT1A
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMT1A Gene

Orthologs for CMT1A Gene

No data available for Orthologs and Evolution for CMT1A Gene

Paralogs for CMT1A Gene

No data available for Paralogs for CMT1A Gene

Variants for CMT1A Gene

Relevant External Links for CMT1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMT1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for CMT1A Gene

Disorders for CMT1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CMT1A Gene - From: GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth neuropathy
  • charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards
Search CMT1A in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CMT1A: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for CMT1A Gene

Publications for CMT1A Gene

  1. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PMID: 10489052) Fabrizi GM … Rizzuto N (Neurology 1999) 2 60
  2. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. (PMID: 8644705) Blair IP … Nicholson GA (American journal of human genetics 1996) 2 60
  3. Genetic basis of inherited peripheral neuropathies. (PMID: 7515304) Suter U … Patel PI (Human mutation 1994) 2 60
  4. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. (PMID: 1677316) Lupski JR … Patel PI (Cell 1991) 2 60

Products for CMT1A Gene

Sources for CMT1A Gene

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