COL6A3

COL6A3
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1KNT, 1KTH, 1KUN, 2KNT
Dynodwyr
Cyfenwau	COL6A3, DYT27, BTHLM1, UCMD1, collagen type VI alpha 3, collagen type VI alpha 3 chain
Dynodwyr allanol	OMIM: 120250 HomoloGene: 37917 GeneCards: COL6A3
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • peptidase inhibitor activity • serine-type endopeptidase inhibitor activity • extracellular matrix structural constituent conferring tensile strength Cydrannau o'r gell • GO:0005578 extracellular matrix • extracellular vesicle • collagen type VI trimer • sarcolemma • collagen • endoplasmic reticulum lumen • extracellular exosome • extracellular space • extracellular region • collagen-containing extracellular matrix Prosesau biolegol • collagen catabolic process • muscle organ development • negative regulation of peptidase activity • cell adhesion • extracellular matrix organization • negative regulation of endopeptidase activity • growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1293	n/a
Ensembl	ENSG00000163359	n/a
UniProt	P12111	n/a
RefSeq (mRNA)	NM_004369 NM_057164 NM_057165 NM_057166 NM_057167	n/a
RefSeq (protein)	NP_004360 NP_476505 NP_476506 NP_476507 NP_476508	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 COL6A3 yw COL6A3 a elwir hefyd yn Collagen type VI alpha 3 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 2, band 2q37.3.

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 COL6A3.

• DYT27
• UCMD1
• BTHLM1

Llyfryddiaeth

• "Serum endotrophin, a type VI collagen cleavage product, is associated with increased mortality in chronic kidney disease. ". PLoS One. 2017. PMID 28403201.
• "The role of mutations in COL6A3 in isolated dystonia. ". J Neurol. 2016. PMID 26872670.
• "The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). ". Mov Disord. 2016. PMID 26687111.
• "Stroma derived COL6A3 is a potential prognosis marker of colorectal carcinoma revealed by quantitative proteomics. ". Oncotarget. 2015. PMID 26338966.
• "Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.". J Med Genet. 2015. PMID 25635128.