COL9A1

COL9A1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2UUR
Dynodwyr
Cyfenwau	COL9A1, DJ149L1.1.2, EDM6, MED, STL4, collagen type IX alpha 1, collagen type IX alpha 1 chain
Dynodwyr allanol	OMIM: 120210 HomoloGene: 1393 GeneCards: COL9A1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • extracellular matrix structural constituent conferring tensile strength • metal ion binding • extracellular matrix structural constituent Cydrannau o'r gell • collagen type IX trimer • extracellular region • collagen • endoplasmic reticulum lumen • extracellular space • GO:0005578 extracellular matrix • collagen-containing extracellular matrix Prosesau biolegol • animal organ morphogenesis • extracellular matrix organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1297	n/a
Ensembl	ENSG00000112280	n/a
UniProt	P20849	n/a
RefSeq (mRNA)	NM_001851 NM_078485 NM_001377289 NM_001377290 NM_001377291	n/a
RefSeq (protein)	NP_001842 NP_511040 NP_001364218 NP_001364219 NP_001364220	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn COL9A1 yw COL9A1 a elwir hefyd yn Collagen type IX alpha 1 chain (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 6, band 6q13.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn COL9A1.

• MED
• EDM6
• STL4
• DJ149L1.1.2

Llyfryddiaeth

• "Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ". Genet Mol Res. 2016. PMID 27819742.
• "COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population. ". PLoS One. 2015. PMID 25774918.
• "Association of reduced type IX collagen gene expression in human osteoarthritic chondrocytes with epigenetic silencing by DNA hypermethylation. ". Arthritis Rheumatol. 2014. PMID 25048791.
• "[Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus]. ". Zhongguo Dang Dai Er Ke Za Zhi. 2011. PMID 21672422.
• "Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.". Invest Ophthalmol Vis Sci. 2011. PMID 21421862.