LRP12

LRP12 is an 859-residue type-I single-pass plasma-membrane protein of the low-density-lipoprotein-receptor-related family. Its extracellular region contains two CUB domains and five LDL-receptor class A repeats, followed by one transmembrane helix and a long cytoplasmic tail. The tail binds α4 integrins and interferes with talin engagement, restraining integrin activation and balancing nascent-adhesion turnover and cell migration; it also interacts with RACK1, NMRK2/MIBP, and ZFYVE9/SARA. Mouse developmental studies link Lrp12 to neuronal arborization, migration, and cortical lamination. Two named human protein isoforms differ by a short N-terminal deletion. Noncoding CGG-repeat expansions in the LRP12 5-prime untranslated region cause oculopharyngodistal myopathy 1 and, at shorter pathogenic repeat lengths, amyotrophic lateral sclerosis 28.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.