Collagen Type IX Alpha 1 (COL9a1)

COL9-A1; MED; Collagen Alpha-1(IX)chain

SPN	U699
HGNC	2217
MGI	88465
PubMed	11565064
RGD	1309425
UniProt	P20849
Wiki	COL9A1

COL9a1 is one of the three alpha chains of type IX collagen, the major 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 may be associated with multiple epiphyseal dysplasia. Defects in COL9A1 are the cause of Stickler syndrome autosomal recessive COL9A1-related. COL9A1ARSTL is an autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness.

Reference

"The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains."
Eur. J. Biochem. 192:703-708(1990) [PubMed] [Europe PMC] [Abstract]

"Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule."
Matrix Biol. 17:237-241(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites."
Biochem. J. 314:327-332(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6."
Eur. J. Biochem. 179:71-78(1989) [PubMed] [Europe PMC] [Abstract]

"The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA."
Proc. Natl. Acad. Sci. U.S.A. 87:2400-2404(1990) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family."
J. Biol. Chem. 282:23219-23230(2007) [PubMed] [Europe PMC] [Abstract]

"A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity."
Am. J. Hum. Genet. 69:969-980(2001) [PubMed] [Europe PMC] [Abstract]

"A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene."
Am. J. Hum. Genet. 79:449-457(2006) [PubMed] [Europe PMC] [Abstract]