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FLASH GENE
Symbol SHANK1 contributors: mct/npt/pgu - updated : 09-05-2012
HGNC name SH3 and multiple ankyrin repeat domains 1
HGNC id 15474
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
in Autism Spectrum Disorder, or broader autism phenotype, limited to males which provides further evidence of the existence of a protective factor and has significant implications for elucidating the molecular basis of sex bias in ASD
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • reduced levels of ultrasonic vocalizations and scent marking behavior in Shank1(-/-) mice are consistent with a phenotype relevant to social communication deficits in autism