Genomic coordinate 8:142,910,559
Here I present: “Corticosterone Methyloxidase-II Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CMO2) 皮質酮甲基氧化酶-II缺乏症。icd10=E27.1
INTRODUCTION.
Corticosterone methyloxidase-II deficiency (CMO2) deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone.
In corticosterone methyloxidase-II deficiency (CMO2), aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB. The cytochrome P450, subfamily-XIB polypeptide-2 (CYP11B2) gene product catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB.
A defect in that enzymatic step results in corticosterone methyloxidase-1 deficiency (CMO1) deficiency, an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO1 deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal.
There is evidence corticosterone methyloxidase type-II deficiency (CMO2) is caused by homozygous mutation in the cytochrome P450, subfamily-XIB polypeptide-2 (CYP11B2) gene on cytogenetic location 8q24.3 and genomic coordinates 8:142,910,559-142,917,843. The screenshot of the CYP11B2 gene 7,285 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CYP11B2 in the 8q24.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:142,771,197 | LYNX1 | Lynx1, mouse, homolog of |
| 8:142,784,882 | LY6D | Lymphocyte antigen 6 complex, locus D |
| 8:142,834,801 | GML | Glycosylphosphatidylinositol-anchored molecule-like protein |
| 8:142,872,357 | CYP11B1 | Cytochrome P450, subfamily XIB, polypeptide 1 |
| 8:142,910,559 | CYP11B2 | Cytochrome P450, subfamily XIB, polypeptide 2 |
| 8:143,018,529 | LY6E | Lymphocyte antigen 6 complex, locus E |
| 8:143,157,916 | LY6H | Lymphocyte antigen 6 complex, locus H |
| 8:143,213,218 | GPIHBP1 | Glycosylphosphatidylinositol high density binding protein 1 |
| 8:143,267,445 | GLI4 | GLI-Kruppel family member GLI4 |
| 8:143,309,324 | TOP1MT | Topoisomerase I, mitochondrial |
