Gene: [12q133/CYP27B1] cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D3-1-alpha-hydroxylase), polypeptide 1; pseudovitamin D deficiency rickets (vitamin D dependency 1);
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ASS |
Vitamin D dependency 1 is thought to be related to the deficiency of a renal enzyme, 25-hydroxycholecalciferol hydroxylase." |
|
HET |
The gene for vitamin D receptor is mapped to the same chromosome (GEM:12q1/VDR). Its defect determines vitamin D dependency 2." |
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REF |
CLO,SEQ,GEN,LOC "Fu GK &: DNA Cell Biol, 16, N12, 1499-1507, 1997a CLO,SEQ,MUT "Fu GK &: Mol Endocrinol, 11, N13, 1961-1970, 1997b MUT,LOC "Kitanaka S &: New Engl J Med, 338, N10, 653-661, 1998 LOC,LIN,FOG,MEB "Labuda M &: J Bone Miner Res, 7, 1447-1453, 1992 LOC,LIN,FOG,MEB "Labuda M &: CCG, 58, (HGM11), 1978, 1991 LOC,LIN,FOG,MEB "Labuda M &: AJHG, 47, 28-36, 1990 LOC,LIN,FOG,MEB "Labuda M &: CCG, 51, (HGM10), 1027-1028, 1989 CLO,SEQ,GEN "Monkawa T &: BBRC, 239, N2, 527-533, 1997 CLO,SEQ,LOC "St-Arnaud R &: J Bone Miner Res, 12, N10, 1552-1559, 1997 CLO,MOU,FUN "Takeyama K &: Science, 277, N5333, 1827-1830, 1997 PAT,FOG "Zhang SZ &: Clin Genet, 37, 153-157, 1990 |
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KEY |
horm, bone, vit, mtbd |
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CLA |
coding, basic |
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LOC |
12 q13.3 |
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MIM |
MIM: 264700 |
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EZN |
ENZYME: 1.14.13.13 |
