AKT1

AKT serine/threonine kinase 1

4 disorders 3 untyped 1 susceptibility 14q32.33 gene with protein product

HGNC:391 Monarch NCBI Gene 207 ENSG00000142208 UniProt P31749 OMIM 164730

Aliases: RAC, PKB, PRKBA, AKT, RAC-alpha.

Normal function · from ai-gene-review (P31749, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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
Cowden Syndrome	susceptibility	mechanism: PTEN Loss and PI3K/AKT/mTOR Pathway Activation subtype: CS6 scoped to subtype: CS6
Central Nervous System Germ Cell Tumor	untyped Recurrent somatic copy-number gain with increased expression somatic	mechanism: Recurrent AKT-mTOR Signaling Alterations
Meningioma	untyped Recurrent activating mutation in non-NF2 meningioma	mechanism: Non-NF2 Driver Mutation Subgroups
Proteus syndrome	untyped Causative somatic

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Cowden syndrome 6 MONDO:0014048	AD	Limited 2024-11-12	Cowden Syndrome susceptibility

Mechanism modules · computed from kb/

germline_two_hit_tumor_predisposition via Cowden Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.