osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II)...

distinctive appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. As a result, regular appointments to a specialist ophthalmologist...

congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found...

mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal...

chain made by the COL2A1 gene. Type XI collagen, on the other hand, is composed of three different alpha chains: the products of the COL2A1, COL11A1, and...

dysplasia congenita (SEDc), a skeletal dysplasia caused by a mutation in the COL2A1 (type II collagen) gene. His repertory encompasses drama, comedy, and fantasy...

abdomen that may also include hydrops and polyhydramnios. Mutations in the COL2A1 gene can cause a number of skeletal abnormalities, including achondrogenesis...

osteoarthritis, spondyloepiphyseal dysplasia, congenital) Identifiers Symbol COL2A1 Alt. symbols SEDC NCBI gene 1280 HGNC 2200 OMIM 120140 RefSeq NM_001844...

Short legs in conjunction with eye abnormalities: a genetic defect at the COL2A1 locus leads to disproportionate dwarfism due to short limbs in connection...

enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation...

cartilage, makes up 50% of all cartilage protein. Vitreous humour of the eye. COL2A1 Collagenopathy, types II and XI III This is the collagen of granulation...

needed] Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules. The protein made by the altered COL2A1 gene cannot be used...

type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal...

severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found...

Italian populations based on allelic frequencies at four VNTR (D1S80, D4S43, COL2A1, D17S5) and one STR (ACTBP2) loci". Human Heredity. 48 (3): 126–137. doi:10...

deformed joints. Type II collagen disorders are caused by variants in the COL2A1 gene. Type II collagen disorders can result in mild disease or severe which...

It has been reported that RTL3 and SOX-9 co-regulate the expression of COL2A1 in chondrocytes. GRCh38: Ensembl release 89: ENSG00000179300 – Ensembl,...

recessive 1:2,000,000 Acheiropodia LMBR1 recessive Achondrogenesis type II COL2A1 (12q13.11) dominant 1:40,000-60,000 Achondroplasia FGFR3 (4p16.3) dominant...

unknown), a genetic defect of cartilage production caused by a mutation in the COL2A1 (type II collagen) gene. This disorder, classified as a skeletal dysplasia...

cartilage, alongside H19. Indeed, there is co-regulation of these two RNAs. The COL2A1 gene associated with osteoarthritis through altered expression levels compared...

results in the downregulation of the other and reduced type II collagen (COL2A1) mRNA and protein expression. Mutations lead to the skeletal malformation...

responsible. For Stickler there are 4 genes are known to cause this syndrome: COL2A1 (75% of Stickler cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular...

Split-hand/foot malformation 3 246560 Spondyloepiphyseal dysplasia congenita 183900 COL2A1 Thanatophoric dysplasia 187600 FGFR3 Townes–Brocks syndrome 107480 SALL1...

condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type...

caused by a mutation in the COL2A1 gene. This mutation is called R275C, and it is located in exon 13 of said gene (COL2A1). It is found in most people...

retrotransposon gag-like-3 gene RTL3 and SOX-9 co-regulate the expression of COL2A1 in chondrocytes". Connective Tissue Research. 62 (6): 615–628. doi:10.1080/03008207...

retrotransposon gag-like-3 gene RTL3 and SOX-9 co-regulate the expression of COL2A1 in chondrocytes". Connective Tissue Research. 62 (6): 615–628. doi:10.1080/03008207...

regulator 2 CCDC42B: encoding protein Coiled Coil Domain Containing protein 42B COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal...

HGNC:2184 P38432 3347 COL1A1 HGNC:2197 P02452 3348 COL1A2 HGNC:2198 P08123 3349 COL2A1 HGNC:2200 P02458 3350 COL3A1 HGNC:2201 P02461 3351 COL4A1 HGNC:2202 P02462...

condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found...