CYP2R1

Protein sy'n cael ei godio yn y corff dynol gan y genyn CYP2R1 yw CYP2R1 a elwir hefyd yn Cytochrome P450 family 2 subfamily R member 1 (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 11, band 11p15.2.

CYP2R1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3C6G, 3CZH, 3DL9
Dynodwyr
Cyfenwau	CYP2R1, cytochrome P450 family 2 subfamily R member 1
Dynodwyr allanol	OMIM: 608713 HomoloGene: 75210 GeneCards: CYP2R1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • iron ion binding • metal ion binding • monooxygenase activity • heme binding • GO:0050602 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen • oxidoreductase activity • vitamin D3 25-hydroxylase activity • steroid hydroxylase activity • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen Cydrannau o'r gell • organelle membrane • endoplasmic reticulum membrane • intracellular membrane-bounded organelle • bilen • Reticwlwm endoplasmig • cytoplasm Prosesau biolegol • response to ionizing radiation • vitamin D metabolic process • response to metal ion • vitamin metabolic process • calcitriol biosynthetic process from calciol • response to cesium ion • organic acid metabolic process • xenobiotic metabolic process • vitamin D biosynthetic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	120227	n/a
Ensembl	ENSG00000186104	n/a
UniProt	Q6VVX0	n/a
RefSeq (mRNA)	NM_024514 NM_001377214 NM_001377215 NM_001377216 NM_001377217 NM_001377227	n/a
RefSeq (protein)	NP_078790 NP_001364143 NP_001364144 NP_001364145 NP_001364146 NP_001364156	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Llyfryddiaeth

• "Genetics, Diet, and Season Are Associated with Serum 25-Hydroxycholecalciferol Concentration in a Yup'ik Study Population from Southwestern Alaska. ". J Nutr. 2016. PMID 26661839.
• "CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. ". J Clin Endocrinol Metab. 2015. PMID 25942481.
• "Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. ". Am J Hum Genet. 2017. PMID 28757204.
• "Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1. ". BMC Ophthalmol. 2016. PMID 27716192.
• "CYP2R1 mutations causing vitamin D-deficiency rickets.". J Steroid Biochem Mol Biol. 2017. PMID 27473561.