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Literature summary for 1.14.14.24 extracted from

  • Cheng, J.B.; Levine, M.A.; Bell, N.H.; Mangelsdorf, D.J.; Russell, D.W.
    Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase (2004), Proc. Natl. Acad. Sci. USA, 101, 7711-7715.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.14.14.24

Application

Application Comment Organism
medicine mutation L99P has been identified in a patient with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency. This individual is homozygous for a transition mutation in exon 2 of the CYP2R1 gene on chromosome 11p15.2, leading to the substitution of a proline for an evolutionarily conserved leucine and eliminating vitamin D 25-hydroxylase enzyme activity Homo sapiens

Protein Variants

Protein Variants Comment Organism
L99P mutation identified in a patient with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency. This individual is homozygous for a transition mutation in exon 2 of the CYP2R1 gene on chromosome 11p15.2, leading to the substitution of a proline for an evolutionarily conserved leucine and eliminating vitamin D 25-hydroxylase enzyme activity Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
microsome
-
 Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
CYP2R1
-
 Homo sapiens