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MAFB

MAF bZIP transcription factor B
2 disorders 1 untyped 1 causative 20q12 gene with protein product
HGNC:6408MonarchNCBI Gene 9935ENSG00000204103UniProt Q9Y5Q3OMIM 608968

Previous symbols: KRML.

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
Duane Retraction Syndrome 3 With Or Without Deafness causative germline loss of function
mechanism: MAFB Transcriptional Output Falls Below Its Developmental Threshold
Duane Retraction Syndrome untyped
Causative
mechanism: CHN1 Hyperactivation and MAFB Loss Disrupt Abducens Motor Neuron Development

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