Table 1.
Vital Information about HPS Genes
| HPS Subtype | Gene | Chromosome | Size | Mouse | No. of Patients | Comments | |||
|---|---|---|---|---|---|---|---|---|---|
| gDNA (kb) | mRNA (kb)* | Exons | Protein (kd)* | ||||||
| 1 | HPS-1 | 10q23.1–13.3 | 31.5 | 3.7 | 20 | 79.3 | pale ear | 450–500 | NW PR isolate |
| 2 | AP3B1 | 5q14.1 | 292.3 | 4.2 | 27 | 140 | pearl | 4 | |
| 3 | HPS-3 | 3q24 | 43.9 | 4.4 | 17 | 113.7 | cocoa | 23 | Central PR isolate |
| 4 | HPS-4 | 22cen-q12.3 | 32.3 | 4.5 | 14 | 76.9 | light ear | 14 | Interacts with HPS-1 |
| 5 | HPS-5 | 11p14 | 43.4 | 4.8 | 23 | 127.4 | ruby eye-2 | 3 | |
| 6 | HPS-6 | 10q24.32 | 2.7 | 2.7 | 1 | 83.0 | ruby eye | 3 | |
| 7 | HPS-7 | 6p22.3 | 140.2 | 1.5 | 10 | 39.5 | sandy | 1 | |
*
mRNA and protein size of the longest transcript forms.
HPS, Hermansky-Pudlak syndrome; PR, Puerto Rico.