Genomic coordinate 17:42,900,799
Here I present: “Von Gierke Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966.(GSD) 馮·吉爾克病。icd10=E74.01
INTRODUCTION.
The disease was named after German doctor Edgar von Gierke, who first described it in 1929. It is the most common of the glycogen storage diseases (GSD). GSD has an incidence of approximately 1 in 100,000 births in the American population, and approximately 1 in 20,000 births among Ashkenazi Jews.
GSD type-1A is caused by a deficiency in the enzyme glucose-6-phosphatase.
GSD type-1B is caused by a deficiency in the transport protein glucose-6-phosphate translocase.
Because glycogenolysis is the principal metabolic mechanism by which the liver supplies glucose to the body during fasting, both deficiencies (type-1A and type-1B) cause severe hypoglycemia and, over time, excess glycogen storage in the liver and (in some cases) in the kidneys.
Glucose-6-phosphatase (EC 3.1.3.9) the key enzyme in the homeostasis regulation of blood glucose concentrations, catalyzes the terminal step in gluconeogenesis and glycogenolysis. There is evidence Von Gierke disease is caused by mutation in the Glucose-6-phosphatase (G6PC) encoded on cytogenetic location 17q21.31 and genomic coordinates 17:42,900,799-42,914,438. The screenshot of the G6PC gene 13,640 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides G6PC in the 17q21.31 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 17:42,810,132 | BECN1 | Beclin 1 |
| 17:42,833,397 | PSME3 | Proteasome activator subunit 3 |
| 17:42,844,580 | AOC2 | Amine oxidase, copper-containing, 2 |
| 17:42,851,199 | AOC3 | Amine oxidase, copper-containing 3 |
| 17:42,900,799 | G6PC | Glucose-6-phosphatase, catalytic |
| 17:42,950,526 | AARSD1 | Alanyl-tRNA synthetase domain-containing 1 |
| 17:42,980,565 | RUNDC1 | RUN domain-containing protein 1 |
| 17:42,998,273 | RPL27 | Ribosomal protein L27 |
| 17:43,006,784 | IFI35 | Interferon-induced protein-35 |
| 17:43,014,607 | VAT1 | Vesicle amine transport protein 1 |
