Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CHL1 contributors: mct/npt - updated : 09-10-2019
HGNC name cell adhesion molecule with homology to L1CAM (close homolog of L1)
HGNC id 1939
ASSOCIATED DISORDERS
corresponding disease(s) DEL3PD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
putatively involved in in 3p- syndrome
tumoral     --over  
in lung adenocarcinomas and squamous cell carcinomas compared to neuroendocrine and large cell carcinomas of the lung
tumoral     --low  
by hypermethylation and that this epigenetic alteration is an independent prognostic factor in breast cancer
Susceptibility
  • to schizophrenia
  • to infantile spasms (ISS)
    • Variant & Polymorphism SNP , other
  • Leu17Phe
  • CNV associated with infantile spasms (ISS)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • adult Chl1(-/-) mice display behavioral traits similar to those observed in neuropsychiatric disorders of humans