LRP12

Chr 8

LDL receptor related protein 12

Also known as: ALS28, MIG13A, ST7

NCBI Gene: 29967 ENSG00000147650 UniProt: Q9Y561

This gene encodes a transmembrane receptor protein involved in internalization of lipophilic molecules and signal transduction. Mutations cause amyotrophic lateral sclerosis 28 and oculopharyngodistal myopathy 1 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.256), indicating intolerance to protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOculopharyngodistal myopathy 1

UniProtAmyotrophic lateral sclerosis 28

Clinical highlights

Gene-disease validity (ClinGen)

oculopharyngodistal myopathy 1 · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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