Gene: ASPN

Alternate names for this Gene: OS3|PLAP-1|PLAP1|SLRR1C

Gene Summary: This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.31

Description of this Gene: asporin

Type of Gene: protein-coding

Gene: CENPP

Alternate names for this Gene: CENP-P

Gene Summary: CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.31

Description of this Gene: centromere protein P

Type of Gene: protein-coding

rs41278695 in ASPN;CENPP gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs3174352 in ASPN;CENPP gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.