Normal function · from ai-gene-review (P01127, 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.

DisorderRelationshipWhere the gene appears
Bilateral Striopallidodentate Calcinosis causative
mechanism: Neurovascular calcium-phosphate deposition
Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy no genetic record
mechanism: Cell-Type-Specific Methylome and Transcriptome Disruption

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