Genomic coordinate 8:27,500,001
Here I present: “Hypoascorbemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 壞血病。icd10=E54
INTRODUCTION.
Hypoascorbemia is an inborn error of metabolism. All members of the human species lack the ability to synthesize ascorbic acid because man, unlike most other mammals, does not possess the enzyme L-gulonolactone oxidase (Enzyme Commission number EC# 1.1.3.8).
Ascorbic acid is an organic compound with formula C6H8O6, originally called hexuronic acid. Ascorbic acid has the SMILES’ structure shown ABOVE.
There is evidence that the hypoascorbemia is caused by a nonfunctional, L-gulonolactone oxidase pseudogene (GULOP) encoded on cytogenetic location 8p21.1 and genomic coordinate 8:27,500,001. Nine (9) other genes besides GULOP in the 8p21.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:27,284,886 | TRIM35 | Tripartite motif-containing protein 35 |
| 8:27,310,506 | PTK2B | Protein tyrosine kinase-2, beta (focal adhesion kinase 2) |
| 8:27,459,756 | CHRNA2 | Cholinergic receptor, nicotinic, alpha polypeptide-2 |
| 8:27,491,143 | EPHX2 | Epoxide hydrolase 2, cytoplasmic |
| 8:27,500,001 | GULOP | Gulonolactone (L-) oxidase pseudogene |
| 8:27,500,001 | SPG37 | Spastic paraplegia 37 |
| 8:27,596,917 | CLU | Clusterin |
| 8:27,633,463 | SCARA3 | Scavenger receptor class A, member 3 |
| 8:27,733,316 | CCDC25 | Coiled-coil domain-containing protein 25 |
| 8:27,771,974 | ESCO2 | Establishment of sister chromatid N-acetyltransferase 2 |
