| P24752 |
http://www.uniprot.org/uniprot/P24752 |
2.3.1.9 |
1 |
ACAT1 |
Acetyl-CoA acetyltransferase, mitochondrial; THIL |
Alpha-methylacetoacetic aciduria |
OMIM #203750 |
| Q9BWD1 |
http://www.uniprot.org/uniprot/Q9BWD1 |
2.3.1.9 |
1 |
ACAT2 |
Acetyl-CoA acetyltransferase, cytosolic |
ACAT2 deficiency |
OMIM #614055 |
| Q01581 |
http://www.uniprot.org/uniprot/Q01581 |
2.3.3.10 |
2 |
HMGCS1 |
Hydroxymethylglutaryl-CoA synthase, cytoplasmic |
Not found |
OMIM #142940 |
| P54868 |
http://www.uniprot.org/uniprot/P54868 |
2.3.3.10 |
2 |
HMGCS2 |
Hydroxymethylglutaryl-CoA synthase, mitochondrial |
HMG-CoA synthase deficiency |
OMIM #605911; PMID 16601895 |
| P35914 |
http://www.uniprot.org/uniprot/P35914 |
4.1.3.4 |
3 |
HMGCL |
Hydroxymethylglutaryl-CoA lyase, mitochondrial |
HMG-CoA lyase deficiency |
OMIM #246450; PMID 17692550 |
| P04035 |
http://www.uniprot.org/uniprot/P04035 |
1.1.1.34 |
4 |
HMGCR |
3-Hydroxy-3-methylglutaryl-coenzyme A reductase |
Not found |
OMIM #142910 |
| Q03426 |
http://www.uniprot.org/uniprot/Q03426 |
2.7.1.36 |
5 |
MVK |
Mevalonate kinase |
Mevalonic aciduria |
OMIM #610377; PMID 16722536 |
| Q15126 |
http://www.uniprot.org/uniprot/Q15126 |
2.7.4.2 |
6 |
PMVK |
Phosphomevalonate kinase |
Not found |
OMIM #607622 |
| P53602 |
http://www.uniprot.org/uniprot/P53602 |
4.1.1.33 |
7 |
MVD |
Mevalonate diphosphate decarboxylase |
Not found |
OMIM #603236 |
| Q13907 |
http://www.uniprot.org/uniprot/Q13907 |
5.3.3.2 |
8 |
IDI1 |
Isopentenyl-diphosphate delta-isomerase 1 |
Not found |
OMIM #604055 |
| Q9BXS1 |
http://www.uniprot.org/uniprot/Q9BXS1 |
5.3.3.2 |
8 |
IDI2 |
Isopentenyl-diphosphate delta-isomerase 2 |
Not found |
Not found |
| P14324 |
http://www.uniprot.org/uniprot/P14324 |
2.5.1.10; 2.5.1.1 |
9 |
FDPS |
Farnesyl diphosphate synthase; dimethylallyltranstransferase |
Not found |
Not found |
| O95749 |
http://www.uniprot.org/uniprot/O95749 |
2.5.1.29; 2.5.1.10; 2.5.1.1 |
10 |
GGPS1 |
Geranylgeranyl pyrophosphate synthase; farnesyl diphosphate synthase; dimethylallyltranstransferase |
Not found |
Not found |
| P37268 |
http://www.uniprot.org/uniprot/P37268 |
2.5.1.21 |
11 |
FDFT1 |
Farnesyl-diphosphate farnesyltransferase 1; squalene synthase |
Not found |
OMIM #184420 |
| Q14534 |
http://www.uniprot.org/uniprot/Q14534 |
1.14.13.132 |
12 |
SQLE |
Squalene monooxygenase; squalene epoxidase |
Not found |
OMIM #602019 |
| P48449 |
http://www.uniprot.org/uniprot/P48449 |
5.4.99.7 |
13 |
LSS |
Lanosterol synthase |
Not found |
OMIM #600909 |
| Q15392 |
http://www.uniprot.org/uniprot/Q15392 |
1.3.1.72 |
14 |
DHCR24 |
Delta(24)-sterol reductase; 24-dehydrocholesterol reductase |
Desmosterolosis |
OMIM #602398; PMID 21559050 |
| Q16850 |
http://www.uniprot.org/uniprot/Q16850 |
1.14.13.70 |
15 |
CYP51A1 |
Lanosterol 14-alpha demethylase; cytochrome P450, family 51, subfamily A, polypeptide 1 |
Not found |
OMIM #601637 |
| O76062 |
http://www.uniprot.org/uniprot/O76062 |
1.3.1.70 |
16 |
TM7SF2 |
Delta(14)-sterol reductase; transmembrane 7 superfamily member 2 |
Not found |
OMIM #603414 |
| Q15800 |
http://www.uniprot.org/uniprot/Q15800 |
1.14.13.72 |
17 |
MSMO1; SC4MOL |
Methylsterol monooxygenase 1 |
Psoriasiform dermatitis; microcephaly; developmental delay |
PMID 21285510 |
| Q15738 |
http://www.uniprot.org/uniprot/Q15738 |
1.1.1.170 |
18 |
NSDHL |
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; NAD(P) dependent steroid dehydrogenase-like |
CK syndrome; CHILD syndrome |
OMIM #300831; PMID 21129721; OMIM #308050 |
| P56937 |
http://www.uniprot.org/uniprot/P56937 |
1.1.1.270 |
19 |
HSD17B7 |
3-Keto-steroid reductase; 17-beta-hydroxysteroid dehydrogenase 7 |
Not found |
OMIM #606756 |
| Q15125 |
http://www.uniprot.org/uniprot/Q15125 |
5.3.3.5 |
20 |
EBP |
3-Beta-hydroxysteroid-delta(8),Delta(7)-isomerase; emopamil-binding protein |
Conradi-Hünermann-Happle syndrome |
OMIM #302960; PMID 21163155; PMID 22229330 |
| O75845 |
http://www.uniprot.org/uniprot/O75845 |
1.14.21.6 |
21 |
SC5DL |
Lathosterol oxidase; sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like |
Lathosterolosis |
OMIM #607330; PMID 12189593 |
| Q9UBM7 |
http://www.uniprot.org/uniprot/Q9UBM7 |
1.3.1.21 |
22 |
DHCR7 |
7-Dehydrocholesterol reductase |
Smith-Lemli-Opitz syndrome (SLOS) |
OMIM #270400; PMID 23059950; PMID 23042628 |
| P08684 |
http://www.uniprot.org/uniprot/P08684 |
1.14.13.97 |
23 |
CYP3A4 |
Cytochrome P450 3A4 |
Not found |
OMIM #124010 |
| O95992 |
http://www.uniprot.org/uniprot/O95992 |
1.14.99.38 |
24 |
CH25H |
Cholesterol 25-hydroxylase |
Alzheimer's disease |
OMIM #604551; PMID 20580938; PMID 16909003 |
| P22680 |
http://www.uniprot.org/uniprot/P22680 |
1.14.13.17 |
25 |
CYP7A1 |
Cholesterol 7-alpha-monooxygenase |
Not found |
OMIM #118455 |
| Q02318 |
http://www.uniprot.org/uniprot/Q02318 |
1.14.13.15 |
26 |
CYP27A1 |
Sterol 26-hydroxylase, mitochondrial |
Cerebrotendinous xanthomatosis |
OMIM #606530; PMID 2019602; PMID 8514861 |
| Q9Y6A2 |
http://www.uniprot.org/uniprot/Q9Y6A2 |
1.14.13.98 |
27 |
CYP46A1 |
Cholesterol 24-hydroxylase |
Alzheimer's disease |
OMIM #604087; PMID 12533085; PMID 12533083 |
