LMPD Database

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LMP002230

Record overview

LMPD IDLMP002230
Gene ID1718
SpeciesHomo sapiens (Human)
Gene Name24-dehydrocholesterol reductase
Gene SymbolDHCR24
SynonymsDCE; Nbla03646; SELADIN1; seladin-1
Alternate namesdelta(24)-sterol reductase; seladin 1; diminuto/dwarf1 homolog; selective AD indicator 1; desmosterol-to-cholesterol enzyme; 3 beta-hydroxysterol delta 24-reductase; 3-beta-hydroxysterol delta-24-reductase
Chromosome1
Map Location1p32.3
EC Number1.3.1.72
SummaryThis gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for DHCR24

Proteins

delta(24)-sterol reductase precursor
Refseq ID:NP_055577
Protein GI:13375618
UniProt ID:Q15392
mRNA ID:NM_014762
Length:516
RefSeq Status:REVIEWED
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTV
SLRVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFV
RCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYY
KPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHT
FQNDIHVYPIWLCPFILPSQPGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQ
DAFPEVYDKICKAARH
 
sig_peptide: 1..22
calculated_mol_wt: 2430
peptide sequence: 
MEPAVSLAVCALLFLLWVRLKG

mat_peptide: 23..516
product: delta(24)-sterol reductase
calculated_mol_wt: 57690
peptide sequence: 
LEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMDIL
EVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLG
FLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYYKPWFFKHVENYLKTNREGLEYI
PLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQPG
LVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH