COL9A3 Antibody

1. rs61734651 variant in COL9A3 was not significantly associated with a predisposition to lumbar disc degeneration. PMID: 29506578
2. In an Iranian population, we observed a 5.8-fold increase in the odds of degenerative disc disease in males when the Trp3 allele was present PMID: 27798555
3. A novel missense mutation was identified in a family diagnosed with multiple epiphyseal dysplasia. PMID: 25381065
4. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. PMID: 24273071
5. We report an 81% mutation detection rate for pseudoachondroplasia, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%). PMID: 21042783
6. Patients with COL9A3 in-frame deletion of three amino acid residues (G181-P183 del) and missense mutation (D617E) showed moderate progressive bilateral sensorineural hearing impairment in all frequencies. PMID: 15917166
7. a fragment of collagen type IX alpha chain is found in 34% of newborns with ureteropelvic junction obstruction, and in 100% of normals. PMID: 17701042

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HGNC: 2219

OMIM: 120270

KEGG: hsa:1299

STRING: 9606.ENSP00000341640

UniGene: Hs.716639