Gene: PRELP

Alternate names for this Gene: MST161|MSTP161|SLRR2A

Gene Summary: The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: proline and arginine rich end leucine rich repeat protein

Type of Gene: protein-coding

rs41313926 in PRELP gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.