Cytochrome P450, Family 24, Subfamily A, Polypeptide 1

Alternative Names

  • CYP24A1
  • Cytochrome P450, Subfamily XXIV
  • CYP24
  • 1,25-Dihydroxyvitamin D3 24-Hydroxylase
  • Vitamin D 24-Hydroxylase
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OMIM Number

126065

NCBI Gene ID

1591

Uniprot ID

Q07973

Length

28,302 bases

No. of Exons

13

No. of isoforms

3

Protein Name

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

Molecular Mass

58875 Da

Amino Acid Count

514

Genomic Location

chr20:54,145,730-54,174,031

Gene Map Locus
20q13.2

Description

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000012.12:g.[57764205=;57768302=] NC_000020.11:g.[54164712=;54125940=]United Arab EmiratesNC_000012.12:g.[57764205=;57768302=] NC_000020.11:g.[54164712=;54125940T=]ProtectiveVitamin D Hydroxylation-Deficient Rickets, Type 1ANC_000012.12:g.[57764205=;57768302=] NC_000020.11:g.[54164712=;54125940=]2762939 6013897 10877012 4646536
NC_000012.12:g.[57764205A>G;57768302G>T] NC_000020.11:g.[54164712=;54125940=]United Arab EmiratesNC_000012.12:g.[57764205A>G;57768302G>T] NC_000020.11:g.[54164712=;54125940=]Risk factorVitamin D Hydroxylation-Deficient Rickets, Type 1A2762939 6013897 10877012 4646536
NC_000020.11:g.54125940=United Arab EmiratesNC_000020.11:g.54125940T=ProtectiveVitamin D Hydroxylation-Deficient Rickets, Type 1ANC_000020.11:g.54125940=6013897
NM_000782.4:c.733-149=United Arab EmiratesNC_000020.11:g.54164712=ProtectiveVitamin D Hydroxylation-Deficient Rickets, Type 1ANG_008334.1:g.14266=; NM_000782.4:c.733-149=; NP_000773.2:p.?2762939
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