Gene: SHANK1

Alternate names for this Gene: SPANK-1|SSTRIP|synamon

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: SH3 and multiple ankyrin repeat domains 1

Type of Gene: protein-coding

rs540781594 in SHANK1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.