| Entry |
|
| Gene name |
EBP, CDPX2, CHO2, CPX, CPXD
|
| Definition |
emopamil binding protein (sterol isomerase) (EC:5.3.3.5)
|
| Orthology |
| cholestenol delta-isomerase [EC: 5.3.3.5] |
|
| Organism |
|
| Pathway |
| Steroid biosynthesis | | Metabolic pathways |
|
| Module |
| Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol |
|
| Disease |
| X-linked chondrodysplasia punctata |
|
| Class |
Metabolism; Lipid metabolism; Steroid biosynthesis [PATH: hsa00100]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: UniProt: |
| Position |
Xp11.23-p11.22
|
| AA seq |
230 aa  
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN |
| NT seq |
693 nt  +upstreamnt +downstreamnt
atgactaccaacgcgggccccttgcacccatactggcctcagcacctaagactggacaac
tttgtacctaatgaccgccccacctggcatatactggctggcctcttctctgtcacaggg
gtcttagtcgtgaccacatggctgttgtcaggtcgtgctgcggttgtcccattggggact
tggcggcgactgtccctgtgctggtttgcagtgtgtgggttcattcacctggtgatcgag
ggctggttcgttctctactacgaagacctgcttggagaccaagccttcttatctcaactc
tggaaagagtatgccaagggagacagccgatacatcctgggtgacaacttcacagtgtgc
atggaaaccatcacagcttgcctgtggggaccactcagcctgtgggtggtgatcgccttt
ctccgccagcatcccctccgcttcattctacagcttgtggtctctgtgggccagatctat
ggggatgtgctctacttcctgacagagcaccgcgacggattccagcacggagagctgggc
caccctctctacttctggttttactttgtcttcatgaatgccctgtggctggtgctgcct
ggagtccttgtgcttgatgctgtgaagcacctcactcatgcccagagcacgctggatgcc
aaggccacaaaagccaagagcaagaagaactga |