Gene Symbol | SHANK1 |
Entrez Gene ID | 50944 |
Full Name | SH3 and multiple ankyrin repeat domains 1 |
Synonyms | SPANK-1,SSTRIP,synamon |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]. |
Disorder MIM: |