CYP2R1

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
	120227
	n/a
	ENSG00000186104
	n/a
	Q6VVX0
	n/a
NM_024514; NM_001377214; NM_001377215; NM_001377216; NM_001377217;
	NM_001377227
	n/a
NP_078790; NP_001364143; NP_001364144; NP_001364145; NP_001364146;
	NP_001364156
	n/a
	Wicidata
Gweld/Golygu Bod dynol

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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] CYP2R1 - Cronfa NCBI

[1]

[2]