Browse All / Genes / FDFT1

FDFT1

farnesyl-diphosphate farnesyltransferase 1
2 disorders 2 causative 8p23.1 gene with protein product
HGNC:3629MonarchNCBI Gene 2222ENSG00000079459UniProt P37268OMIM 184420

Aliases: SQS.

Normal function · from ai-gene-review (P37268, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; 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
Porokeratosis causative somatic
mechanism: Biallelic Mevalonate Pathway Enzyme Deficiency; Somatic FDFT1 Promoter Hypermethylation
Squalene Synthase Deficiency causative germline partial loss of function
mechanism: Biallelic Hypomorphic FDFT1 Variants

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