Table 1.
List of the 23 Sec Genes, Human Orthologues, and Paralogues plus Rare Diseases
| Yeast Gene | Human Gene | Disease | OMIM # | ORPHANET # | Prevalence |
|---|---|---|---|---|---|
| sec1 | STXBP1 | Epileptic encephalopathy, early infantile, 4 | 612164 | 1934 | 1/100000 |
| STXBP2 | Hemophagocytic lymphohistiocytosis, familial, 5 | 613101 | 540 | 1/100000 | |
| STXBP3 | |||||
| sec2 | RAB3IP | ||||
| RAB3IL1 | |||||
| sec3 | EXOC1 | ||||
| sec4 | RAB8A | ||||
| RAB8B | |||||
| sec5 | EXOC2 | ||||
| sec6 | EXOC3 | ||||
| sec7 | ARFGEF1 | ||||
| ARFGEF2 | Periventricular heterotopia with microcephaly | 608097 | 98892 | ||
| sec8 | EXOC4 | ||||
| sec9 | SNAP25 | Myasthenic syndrome, congenital, 18 | 616330 | 590 | |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | 609528 | 66631 | 7 subjects identified | |
| SNAP23 | |||||
| sec10 | EXOC5 | ||||
| sec11 | SEC11C | ||||
| SEC11A | |||||
| SEC11B | |||||
| sec12 | PREB | ||||
| sec13 | SEC13 | ||||
| sec14 | SEC14L2 | ||||
| SEC14L3 | |||||
| SEC14L1 | |||||
| SEC14L5 | |||||
| SEC14L4 | |||||
| SEC14L6 | |||||
| sec15 | EXOC6B | Spondyloepimetaphyseal dysplasia with joint laxity, type III | 618395 | 93359 | |
| EXOC6 | |||||
| sec16 | SEC16A | ||||
| SEC16B | |||||
| sec17 | NAPA | ||||
| NAPB | |||||
| sec18 | NSF | ||||
| sec20 | BNIP1 | ||||
| sec21 | COPG1 | ||||
| COPG2 | |||||
| sec22 | SEC22B | ||||
| SEC22C | |||||
| SEC22A | |||||
| sec23 | SEC23A | Craniolenticulosutural dysplasia | 607812 | 50814 | 27 cases described |
| SEC23B | Cowden syndrome 7 | 616858 | 201 | 1 in 200,000 to 250,000 | |
| SEC23B | Dyserythropoietic anemia, congenital, type II | 224100 | 98873 |