LRCH2 Chromosome X

Leucine rich repeats and calponin homology domain containing 2
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in LRCH2.

What This Gene Does
This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Leucine rich repeats and calponin homology domain containing
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000130224
Associated Conditions (2)
Demyelinating peripheral neuropathy
Cerebellar ataxia
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2147404569 Health Risk Pathogenic Demyelinating peripheral neuropathy, Cerebellar ataxia, Demyelinating peripheral neuropathy
Sign Up to Analyze Your DNA Log In