Protein Name: 7-dehydrocholesterol reductase
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UniprotKB/SwissProt ID: DHCR7_HUMAN (Q9UBM7)
Gene Name: DHCR7
Synonyms: D7SR
Organism: Homo sapiens (Human).
Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Endoplasmic reticulum membrane; Multi-pass membrane protein.
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Protein disease:
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| Disease database |
Database Entry |
Disease information | | KEGG | H00161 | Smith-Lemli-Opitz syndrome | | KEGG | H00608 | 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenita | | OMIM | 270400 | SMITH-LEMLI-OPITZ SYNDROME; SLOS ;;SLO SYNDROME;; RSH SYNDROME;; RUTLEDGE LETHAL MULTIPLE CO | | OMIM | 602858 | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7 ;;STEROL DELTA-7-REDUCTASE | | HPRD | 04174 | Smith-Lemli-Opitz syndrome | | HPRD | 04174 | Smith-Lemli-Opitz syndrome, mild |
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Network with metabolic pathway:
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Graphical Visualization of S-nitrosylation Sites:
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| Overview of Protein S-nitrosylation Sites with Functional and Structural Information |  |
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