The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene.
A synthesized peptide derived from human VMA21.
This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase. Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. Associates with the V0 complex of the vacuolar ATPase (V-ATPase). MEAX is a childhood-onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. It is inherited in recessive fashion, affecting boys and sparing carrier females. Onset is in childhood, and patients exhibit weakness of the proximal muscles of the lower extremities, progressing slowly to involve other skeletal muscle groups over time.
A synthesized peptide derived from human VN1R1, corresponding to a region within N-terminal amino acids.
A synthesized peptide derived from human VN1R2, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human VN1R4, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human VNN1, corresponding to a region within the internal amino acids.
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