Aliases: PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1.
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 |
|---|---|---|
| Erythrokeratodermia Variabilis | causative |
mechanism: Desmosome Maturation Failure; Keratinocyte Hyperproliferation
subtype: EKVP7
scoped to subtype: EKVP7
|
| Olmsted Syndrome 2 | causative germline unknown |
mechanism: PERP Last-Exon Nonsense Variant; Unstable Desmosomal Incorporation of Truncated PERP
|
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.