DHCR24
entrez
1718
canonical
uniprot
Q15392
canonical
ensembl
ENSG00000116133
resolver
ensp
ENSP00000360316
resolver
genesymbol
DHCR24
resolver
genesymbol_syn
KIAA0018
resolver
hgnc
HGNC:2859
resolver
uniprot
B7Z817
resolver
uniprot
D3DQ51
resolver
uniprot
Q9HBA8
resolver
uniprot_entry
DHC24_HUMAN
resolver
uniprot_sec
B7Z817
resolver
uniprot_sec
D3DQ51
resolver
uniprot_sec
Q9HBA8
resolver
amino_acid_sequence
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYYKPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQPGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH
uniprot
proteins
disease_involvement
DISEASE: Desmosterolosis (DESMOS) [MIM:602398]: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. {ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:21671375}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.72
uniprot
proteins
function
FUNCTION: Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892). {ECO:0000269|PubMed:11007892, ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:21671375, ECO:0000269|PubMed:22010141, ECO:0000269|PubMed:22178193, ECO:0000269|PubMed:25637936}.
uniprot
proteins
mass_dalton
60101
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. {ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:21671375}.
uniprot
proteins
protein_family
FAD-binding oxidoreductase/transferase type 4 family
uniprot
proteins
pubmed
11007892
uniprot
proteins
pubmed
11519011
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21671375
uniprot
proteins
pubmed
22010141
uniprot
proteins
pubmed
22178193
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25637936
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7584026
uniprot
proteins
sequence_length
516
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11007892, ECO:0000269|PubMed:22010141}; Single-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:11007892}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..52; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins