LRP12 gene

LDL receptor related protein 12

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor.

From NCBI Gene:

  • Oculopharyngodistal myopathy

From UniProt:

Oculopharyngodistal myopathy 1 (OPDM1): A disease characterized by ptosis, external ophthalmoplegia and weakness of the masseter, facial, pharyngeal and distal limb muscles. OPDM1 inheritance can be autosomal dominant or autosomal recessive. [MIM:164310]

Cytogenetic Location: 8q22.3, which is the long (q) arm of chromosome 8 at position 22.3

Molecular Location: base pairs 104,489,231 to 104,589,024 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 8q22.3, which is the long (q) arm of chromosome 8 at position 22.3
  • MIG13A
  • ST7