Aliases: PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| PAMI Syndrome | causative de novo |
mechanism: PSTPIP1 Coiled-Coil Charge Reversal
|
| PAPA Syndrome | causative |
mechanism: Loss of PSTPIP1-PTP-PEST Binding
|
| Pyoderma Gangrenosum | modifier |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.