Metazoan complexes |
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Details of CYP27B1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CYP27B1 | CYP1ALPHA,CYP27B | O15528 | CP27B_HUMAN | 1594 | ENSG00000111012 | 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. Note=The disease is caused by mutations affecting the gene represented in this entry. | 264700 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Cyp27b1 | Cyp12a4... | cyp-44A1 | SPU_000645 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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