Cholesterol biosynthesis pathway in hepatocytes
Pathways in the Cholesterol biosynthesis pathway in hepatocytes SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | Cholesterol biosynthesis pathway in hepatocytes | WikiPathways |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | NR1H2 | Nuclear Receptor Subfamily 1 Group H Member 2 | Protein Coding | 1 |
| 2 | CYP51A1 | Cytochrome P450 Family 51 Subfamily A Member 1 | Protein Coding | 1 |
| 3 | HMGCS1 | 3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 | Protein Coding | 1 |
| 4 | CYP7A1 | Cytochrome P450 Family 7 Subfamily A Member 1 | Protein Coding | 1 |
| 5 | SREBF1 | Sterol Regulatory Element Binding Transcription Factor 1 | Protein Coding | 1 |
| 6 | FADS2 | Fatty Acid Desaturase 2 | Protein Coding | 1 |
| 7 | ELOVL4 | ELOVL Fatty Acid Elongase 4 | Protein Coding | 1 |
| 8 | SCD | Stearoyl-CoA Desaturase | Protein Coding | 1 |
| 9 | ACAT2 | Acetyl-CoA Acetyltransferase 2 | Protein Coding | 1 |
| 10 | ACSL1 | Acyl-CoA Synthetase Long Chain Family Member 1 | Protein Coding | 1 |
Disorders associated with Cholesterol biosynthesis pathway in hepatocytes SuperPath
according to GeneCards Suite gene sharing
| # | Disorder | Type | Genes | Score |
|---|---|---|---|---|
| 1 | Mucoepithelial dysplasia, hereditary | Enrichment | SREBF1 | 3.13 |
| 2 | Spinocerebellar ataxia 34 | Enrichment | ELOVL4 | 3.13 |
| 3 | Ifap syndrome 2 | Enrichment | SREBF1 | 3.13 |
| 4 | Ichthyosis, spastic quadriplegia, and impaired intellectual development | Enrichment | ELOVL4 | 3.13 |
| 5 | Acetyl-coa acetyltransferase-2 deficiency | Enrichment | ACAT2 | 3.13 |
| 6 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | Enrichment | CYP51A1 | 3.13 |
| 7 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | Enrichment | CYP7A1 | 3.13 |
| 8 | Alpha-methylacetoacetic aciduria | Enrichment | ACAT2 | 2.83 |
| 9 | Stargardt disease 3 | Enrichment | ELOVL4 | 2.83 |
| 10 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | SREBF1 | 2.66 |
| 11 | Congenital myopathy 3 with rigid spine | Enrichment | HMGCS1 | 2.43 |
| 12 | Hirschsprung disease 1 | Enrichment | SREBF1 | 1.67 |
| 13 | Stargardt disease 1 | Enrichment | ELOVL4 | 1.66 |
| 14 | Spastic ataxia | Enrichment | ELOVL4 | 1.42 |
| 15 | Hereditary retinal dystrophy | Enrichment | ELOVL4 | 0.71 |
| 16 | Fundus dystrophy | Enrichment | ELOVL4 | 0.71 |
