SBF1

SET binding factor 1

2 disorders 1 no genetic record 1 causative 22q13.33 gene with protein product

HGNC:10542 Monarch NCBI Gene 6305 ENSG00000100241 UniProt O95248 OMIM 603560

Aliases: MTMR5, DENND7A.

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
Charcot-Marie-Tooth Disease Type 4B3	causative germline loss of function	mechanism: SBF1 Loss of Function animal model: Mtmr5-null mouse; mtmr5 knockout zebrafish
Charcot-Marie-Tooth Disease Type 4	no genetic record	subtype: CMT4B3

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
Charcot-Marie-Tooth disease type 4B3 MONDO:0014117	AR	Moderate 2026-08-08	Charcot-Marie-Tooth Disease Type 4 no genetic record Charcot-Marie-Tooth Disease Type 4B3 causative

Mechanism modules · computed from kb/

schwann_cell_myelin_maintenance via Charcot-Marie-Tooth Disease Type 4B3

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