Symbol
| SHANK1
| contributors: mct/npt/pgu - updated : 09-05-2012
|
HGNC name
| SH3 and multiple ankyrin repeat domains 1
|
HGNC id
| 15474
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| reduced levels of ultrasonic vocalizations and scent marking behavior in Shank1(-/-) mice are consistent with a phenotype relevant to social communication deficits in autism |