Here I present: “Aceruloplasminemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 錐形蟲血癥。(ACEP).
INTRODUCTION.
Aceruloplasminemia is an autosomal recessive disorder in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time.
There is evidence that aceruloplasminemia (ACEP) is caused by homozygous or compound heterozygous mutation in the gene encoding ceruloplasmin(CP) on cytogenetic location 3q24-q25.1 and genomic coordinates 3:149,162,414-149,221,829. The screenshot of the CP gene 59,416 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CP in the 3q24-q25.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:148,865,296 | CPA3 | Carboxypeptidase A3, mast cell |
| 3:148,991,540 | GYG1 | Glycogenin 1 |
| 3:149,030,063 | SMARCA3 | SWI/SNF matrix associated, dependent regulator chromatin, a, 3 |
| 3:149,129,638 | HPS3 | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 |
| 3:149,162,414 | CP | Ceruloplasmin |
| 3:149,200,001 | ASPG1 | Asperger syndrome, susceptibility to, 1 |
| 3:149,200,001 | AUTS8 | Autism, susceptibility to, 8 |
| 3:149,200,001 | CELIAC10 | Celiac disease, susceptibility to, 10 |
| 3:149,200,001 | ETL6 | Epilepsy, familial temporal lobe, 6 |
| 3:149,369,022 | TM4SF1 | Transmembrane-4 superfamily, member 1 |
