Previous symbols: C13orf12. Aliases: HSPC014, UMP1.
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 |
|---|---|---|
| KLICK Syndrome | causative germline |
mechanism: Epidermal Proteasome Insufficiency; Homozygous POMP 5' UTR Deletion; POMP Transcriptional Switch to Long 5' UTR Variants; Reduced POMP in Differentiating Keratinocytes
|
| Proteasome-Associated Autoinflammatory Syndrome | causative |
mechanism: Proteasome Assembly Chaperone Loss of Function
subtype: PRAAS2
scoped to subtype: PRAAS2
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.