Here I present: “Argininemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 精氨酸血癥。(ARG1) icd10=E72.21
INTRODUCTION.
Arginase (EC 3.5.3.1) catalyzes the last step of the urea cycle. It is present in 2 forms, specified by separate gene loci, ARG1 and ARG2. The isoform encoded by ARG1, referred to as the liver, or A-I, isoform, contributes 98% of the arginase activity in liver but is also present in red cells. ARG2 encodes the mitochondrial, or A-II, isoform, which predominates in kidney.
There is evidence that ARG1 is encoded on cytogenetic location 6q23.2 and genomic coordinates 6:131,573,226-131,584,329. The screenshot of the ARG1 gene 11,104 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ARG1 in the 6q23.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:130,018,581 | L3MGTL3 | L3MBTL histone methyl-lysine-binding protein 3 |
| 6:130,142,752 | SAMD3 | Sterile alpha motif domain-containing 3 |
| 6:130,839,347 | EPB41L2 | Erythrocyte membrane protein band 4.1-like 2 |
| 6:131,125,627 | AKAP7 | A-kinase anchor protein 7 |
| 6:131,573,226 | ARG1 | Arginase, liver |
| 6:131,573,966 | MED23 | Mediator complex subunit 23 |
| 6:131,637,302 | ENPP3 | Ectonucleotide pyrophosphatase/phosphodiesterase 3 |
| 6:131,808,020 | ENPP1 | Ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| 6:131,948,176 | CCN2 | Cellular communication network factor 2 |
| 6:132,296,055 | MOXD1 | Monooxygenase, DBH-like, 1 |
