Gene Symbol | SHOC2 |
Entrez Gene ID | 8036 |
Full Name | SHOC2, leucine rich repeat scaffold protein |
Synonyms | SIAA0862,SOC2,SUR8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]. |
Disorder MIM: | |
Disorder Html: | Noonan-like syndrome with loose anagen hair, 607721 (3) |