PRICKLE3 Chromosome X
Prickle planar cell polarity protein 3
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What This Gene Does
LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Prickle planar cell polarity proteins|LIM domain containing"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000012211
Associated Conditions (1)
Leber optic atrophy
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146977278 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200135955 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2065470015 | Health Risk | risk factor | Leber optic atrophy, Leber optic atrophy |