| Entry |
|
| Gene name |
CYP21A2, CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
|
| Definition |
cytochrome P450, family 21, subfamily A, polypeptide 2 (EC:1.14.99.10)
|
| Orthology |
| cytochrome P450, family 21, subfamily A (steroid 21-monooxygenase) [EC: 1.14.99.10] |
|
| Organism |
|
| Pathway |
| Steroid hormone biosynthesis | | Metabolic pathways |
|
| Module |
| C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone | | C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone |
|
| Disease |
| Congenital adrenal hyperplasia (CAH) | | 46,XX disorders of sex development (Disorders related to androgen excess) |
|
| Class |
Metabolism; Lipid metabolism; Steroid hormone biosynthesis [PATH: hsa00140]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
6p21.3
|
| AA seq |
495 aa  
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIY
RLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAH
KKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGD
KIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANT
LSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVV
PLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRAL
AFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ |
| NT seq |
1488 nt  +upstreamnt +downstreamnt
atgctgctcctgggcctgctgctgctgctgcccctgctggctggcgcccgcctgctgtgg
aactggtggaagctccggagcctccacctcccgcctcttgccccgggcttcttgcacctg
ctgcagcccgacctccccatctatctgcttggcctgactcagaaattcgggcccatctac
aggctccaccttgggctgcaagatgtggtggtgctgaactccaagaggaccattgaggaa
gccatggtcaaaaagtgggcagactttgctggcagacctgagccacttacctacaagctg
gtgtctaggaactacccggacctgtccttgggagactactccctgctctggaaagcccac
aagaagctcacccgctcagccctgctgctgggcatccgtgactccatggagccagtggtg
gagcagctgacccaggagttctgtgagcgcatgagagcccagcccggcacccctgtggcc
attgaggaggaattctctctcctcacctgcagcatcatctgttacctcaccttcggagac
aagatcaaggacgacaacttaatgcctgcctattacaaatgtatccaggaggtgttaaaa
acctggagccactggtccatccaaattgtggacgtgattccctttctcaggttcttcccc
aatccaggtctccggaggctgaagcaggccatagagaagagggatcacatcgtggagatg
cagctgaggcagcacaaggagagcctcgtggcaggccagtggagggacatgatggactac
atgctccaaggggtggcgcagccgagcatggaagagggctctggacagctcctggaaggg
cacgtgcacatggctgcagtggacctcctgatcggtggcactgagaccacagcaaacacc
ctctcctgggccgtggtttttttgcttcaccaccctgagattcagcagcgactgcaggag
gagctagaccacgaactgggccctggtgcctccagctcccgggtcccctacaaggaccgt
gcacggctgcccttgctcaatgccaccatcgccgaggtgctgcgcctgcggcccgttgtg
cccttagccttgccccaccgcaccacacggcccagcagcatctccggctacgacatccct
gagggcacagtcatcattccgaacctccaaggcgcccacctggatgagacggtctgggag
aggccacatgagttctggcctgatcgcttcctggagccaggcaagaactccagagctctg
gccttcggctgcggtgcccgcgtgtgcctgggcgagccgctggcgcgcctggagctcttc
gtggtgctgacccgactgctgcaggccttcacgctgctgccctccggggacgccctgccc
tccctgcagcccctgccccactgcagtgtcatcctcaagatgcagcctttccaagtgcgg
ctgcagccccgggggatgggggcccacagcccgggccagagccagtga |