Here I present: “Keratosis Palmoplantaris Striata”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PPKS2) 鏈足掌性角化病。icd10=L85.1
INTRODUCTION.
Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury; and keratosis palmoplantaris striata.
There is evidence that the desmoplakin (DSP) gene is encoded on cytogenetic location 6p24.3 and genomic coordinates 6:7,541,671-7,586,714. The screenshot of the DSP gene 45,044 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DSP in the 6p24.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:7,107,743 | RREB1 | RAS-responsive element binding protein-1 |
| 6:7,281,143 | SSR1 | Signal sequence receptor, alpha |
| 6:7,326,659 | CTAG3 | Cancer/testis antigen 3 |
| 6:7,389,808 | RIOK1 | RIO kinase 1 |
| 6:7,541,671 | DSP | Desmoplakin |
| 6:7,726,099 | BMP6 | Bone morphogenetic protein-6 |
| 6:7,881,517 | TXNDC5 | Thioredoxin domain-containing protein 5 |
| 6:8,013,567 | BLOC1S5 | Biogenesis of lysosome-related organelles complex 1, subunit 5 |
| 6:8,073,360 | EEF1E1 | Eukaryotic translation elongation factor 1, epsilon-1 |
| 6:8,411,435 | SLC35B3 | Solute carrier family member B3 |
