COL9A1 Chromosome 6
Collagen type IX alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL9A1.
What This Gene Does
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Collagen proteoglycans|Fibril associated collagens with interrupted triple helices"
Locus Type
gene with protein product
Location
6q13
Ensembl
ENSG00000112280
Associated Conditions (17)
Connective tissue disorder
Inborn genetic diseases
COL9A1-related disorder
Epiphyseal dysplasia
multiple
6
Stickler syndrome
type 4
Hearing impairment
Optic atrophy
Retinal dystrophy
Uterine corpus endometrial carcinoma
Familial cancer of breast
Congenital heart disease
Marfan syndrome
See cases
Sensorineural hearing loss disorder
Key Variants
RS1135057
Conflicting classifications of pathogenicity
Connective tissue disorder, Connective tissue disorder
Health Risk
RS1360782538
Conflicting classifications of pathogenicity
Health Risk
RS138583508
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL9A1-related disorder, Epiphyseal dysplasia
Health Risk
RS140274454
Conflicting classifications of pathogenicity
Health Risk
RS141047907
Conflicting classifications of pathogenicity
Health Risk
RS141776183
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141825151
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141830060
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142328549
Conflicting classifications of pathogenicity
Health Risk
RS143848379
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 6
Health Risk
RS144581626
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS145698301
Conflicting classifications of pathogenicity
Stickler syndrome, type 4, Epiphyseal dysplasia
Health Risk
All Variants (116)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1773262818 | Health Risk | Likely pathogenic | — |
| RS1774086195 | Health Risk | Likely pathogenic | — |
| RS201035486 | Health Risk | Likely pathogenic | Stickler syndrome, type 4, Stickler syndrome |
| RS2483176844 | Health Risk | Likely pathogenic | — |
| RS2483190622 | Health Risk | Likely pathogenic | — |
| RS2483237716 | Health Risk | Likely pathogenic | — |
| RS2483242918 | Health Risk | Likely pathogenic | — |
| RS2483307125 | Health Risk | Likely pathogenic | — |
| RS2483312174 | Health Risk | Likely pathogenic | COL9A1-related disorder, COL9A1-related disorder |
| RS2483387310 | Health Risk | Likely pathogenic | — |
| RS2483392842 | Health Risk | Likely pathogenic | — |
| RS2483425306 | Health Risk | Likely pathogenic | Stickler syndrome, Stickler syndrome |
| RS2483454898 | Health Risk | Likely pathogenic | — |
| RS2483456409 | Health Risk | Likely pathogenic | — |
| RS2483469257 | Health Risk | Likely pathogenic | — |
| RS2483528312 | Health Risk | Likely pathogenic | — |
| RS377760437 | Health Risk | Likely pathogenic | — |
| RS755976129 | Health Risk | Likely pathogenic | Stickler syndrome, type 4, Stickler syndrome |
| RS759460647 | Health Risk | Likely pathogenic | COL9A1-related disorder, COL9A1-related disorder |
| RS772239348 | Health Risk | Likely pathogenic | — |
| RS868122313 | Health Risk | Likely pathogenic | — |
| RS1034243338 | Health Risk | Pathogenic | — |
| RS1049091691 | Health Risk | Pathogenic | COL9A1-related disorder, COL9A1-related disorder |
| RS1057519130 | Health Risk | Pathogenic | — |
| RS1187047204 | Health Risk | Pathogenic | — |
| RS121912931 | Health Risk | Pathogenic | Stickler syndrome, type 4, See cases |
| RS1331918224 | Health Risk | Pathogenic | — |
| RS1354713391 | Health Risk | Pathogenic | — |
| RS140240551 | Health Risk | Pathogenic | — |
| RS1482734025 | Health Risk | Pathogenic | COL9A1-related disorder, COL9A1-related disorder |
| RS1769631840 | Health Risk | Pathogenic | — |
| RS1772042015 | Health Risk | Pathogenic | — |
| RS1774006330 | Health Risk | Pathogenic | — |
| RS189754995 | Health Risk | Pathogenic | Stickler syndrome, type 4, Connective tissue disorder |
| RS2127544065 | Health Risk | Pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS2127557714 | Health Risk | Pathogenic | COL9A1-related disorder, COL9A1-related disorder |
| RS2127565932 | Health Risk | Pathogenic | — |
| RS2127566670 | Health Risk | Pathogenic | — |
| RS2127576361 | Health Risk | Pathogenic | — |
| RS2127576931 | Health Risk | Pathogenic | — |
| RS2127605169 | Health Risk | Pathogenic | — |
| RS2127609482 | Health Risk | Pathogenic | — |
| RS2483175972 | Health Risk | Pathogenic | — |
| RS2483248331 | Health Risk | Pathogenic | — |
| RS2483312751 | Health Risk | Pathogenic | — |
| RS2483397187 | Health Risk | Pathogenic | — |
| RS2483459179 | Health Risk | Pathogenic | — |
| RS2483459984 | Health Risk | Pathogenic | — |
| RS2483467270 | Health Risk | Pathogenic | — |
| RS2483472550 | Health Risk | Pathogenic | — |