LRCH2 Chromosome X
Leucine rich repeats and calponin homology domain containing 2
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147404569 | Health Risk | Pathogenic | Demyelinating peripheral neuropathy, Cerebellar ataxia, Demyelinating peripheral neuropathy |