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GCID:
GC00U922103
GIFtS:
12

CMT1A Gene(Genetic Locus)

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

Aliases for CMT1A Gene

Aliases for CMT1A Gene

  • Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia) 2
  • PMP22 6
  • CMT1E 6
  • DSS 6

External Ids for CMT1A Gene

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 disease, type 1a and neuropathy, recurrent, with pressure palsies. Among its related pathways are Neural Crest Differentiation and a6b1 and a6b4 Integrin signaling.

No data available for Entrez Gene 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

Orientation:
Unknown strand

Genomic View for CMT1A Gene

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

No data available for RefSeq DNA sequence and Regulatory Elements 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 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CMT1A Gene

Localization for CMT1A Gene

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

Pathways for CMT1A Gene

genes like me logo Genes that share pathways with CMT1A: view

Pathways by source for CMT1A Gene

2 BioSystems pathways for CMT1A Gene

Interacting Proteins for CMT1A Gene

Gene Ontology (GO) - Biological Process for CMT1A Gene

None

Transcripts for CMT1A Gene

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

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 expression and mRNA Expression by UniProt/SwissProt 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

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 Relevant External Links for CMT1A Gene

Disorders for CMT1A Gene

(6) OMIM Diseases for CMT1A Gene (601097)

genes like me logo Genes that share disorders with CMT1A: view

No data available for UniProtKB/Swiss-Prot for CMT1A Gene

Publications for CMT1A Gene

  1. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. (PMID: 1677316) Lupski J.R. … Patel P.I. (Cell 1991) 2
  2. Genetic basis of inherited peripheral neuropathies. (PMID: 7515304) Suter U. … Patel P.I. (Hum. Mutat. 1994) 2
  3. 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 I.P. … Nicholson G.A. (Am. J. Hum. Genet. 1996) 2
  4. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PMID: 10489052) Fabrizi G.M. … Rizzuto N. (Neurology 1999) 2

Products for CMT1A Gene

Sources for CMT1A Gene

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