LRP12 Chromosome 8
LDL receptor related protein 12
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What This Gene Does
This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000147650
Associated Conditions (2)
Oculopharyngodistal myopathy 1
Amyotrophic lateral sclerosis 28
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142053596 | Health Risk | Conflicting classifications of pathogenicity | Oculopharyngodistal myopathy 1, Amyotrophic lateral sclerosis 28, Oculopharyngodistal myopathy 1 |