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SHOC2 SHOC2, leucine rich repeat scaffold protein

Also known as: SOC2; SUR8; SIAA0862

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Noonan syndrome-like disorder with loose anagen hair
MedGen: C3501846GeneReviews: Not available
not available
Noonan syndrome-like disorder with loose anagen hair 1
MedGen: C1843181OMIM: 607721GeneReviews: Not available
See labs

Genomic context

Location:
10q25.2
Sequence:
Chromosome: 10; NC_000010.11 (110919370..111013667)
Total number of exons:
14

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