Aliases for PRELP Gene
External Ids for PRELP Gene
Previous GeneCards Identifiers for PRELP Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PRELP Gene
PRELP (Proline And Arginine Rich End Leucine Rich Repeat Protein) is a Protein Coding gene. Diseases associated with PRELP include Hutchinson-Gilford Progeria and Progeria. Among its related pathways are Diseases associated with O-glycosylation of proteins and Keratan sulfate/keratin metabolism. GO annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is KERA.
UniProtKB/Swiss-Prot for PRELP Gene
May anchor basement membranes to the underlying connective tissue.