Previous symbols: MEKK1. Aliases: MEKK, MAPKKK1.
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 |
|---|---|---|
| 46,XY complete gonadal dysgenesis | causative germline |
mechanism: MAP3K1 gain-of-function pro-ovarian signaling bias
subtype: MAP3K1-related complete gonadal dysgenesis
|
| 46,XY partial gonadal dysgenesis | causative germline |
mechanism: Enhanced MAP3K1-RHOA association; Increased ERK1/2 phosphorylation; Increased MAP3K1 protein abundance; Increased beta-catenin-dependent transcription; Increased p38 phosphorylation; MAP3K1 sequence alteration; Reduced MAP3K1 ubiquitination
subtype: MAP3K1-related PGD
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.