CYP2R1

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CYP2R1
Protein CYP2R1 PDB 2ojd.png
Strwythurau
PDBOrthologau:PDBe RCSB
Dynodwyr
CyfenwauCYP2R1, cytochrome P450 family 2 subfamily R member 1
Dynodwyr allanolMGI: 2449771 HomoloGene: 75210 GeneCards: CYP2R1
Patrwm RNA pattern
PBB GE CYP2R1 gnf1h06427 at fs.png
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024514

NM_177382

RefSeq (protein)

NP_078790

NP_796356

Lleoliad (UCSC)n/aChr : 114.55 – 114.56 Mb
PubMed search[2][3]
Wicidata
Gweld/Golygu Bod dynolGweld/Golygu Llygoden

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.[4]

Llyfryddiaeth[golygu | golygu cod y dudalen]

  • "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[golygu | golygu cod y dudalen]