SC5D Gene Summary [Human]
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SC5D |
| Official Name | sterol-C5-desaturase [Source:HGNC Symbol;Acc:HGNC:10547] |
| Ensembl ID | ENSG00000109929 |
| Bio databases IDs | |
| Aliases | sterol-C5-desaturase, lathosterol oxidase, delta(7)-sterol 5(6)-desaturase |
| Synonyms | A830037K02, A830073K23Rik, ERG3, Lathosterol oxidase, S5DES, SC5DL, STEROL C5 DESATURASE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SC5D often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fatty acid hydroxylase
- lathosterol oxidase
- C-5 sterol desaturase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- experimental autoimmune encephalomyelitis
- hypoplasia
- Alzheimer disease
- Lathosterolosis
- multiple sclerosis
- growth failure
- cleft palate
- hepatocellular carcinoma
regulates
- fatty acid
- cholesterol
- glycogen
- 7-dehydrocholesterol
- SC5D
role in cell
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SC5D gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol biosynthetic process via lathosterol
- lipid metabolic process
- cholesterol biosynthetic process via desmosterol
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- lathosterol oxidase activity
- iron ion binding
- C-5 sterol desaturase activity