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MAFB - MAF bZIP transcription factor B
- Synonym(s) :
- Previous symbols and names : KRML, Kreisler (mouse) maf-related leucine zipper homolog, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
- Type : gene with protein product
- Chromosomal location : 20q12
- OMIM: 608968
- HGNC: 6408
- UniProtKB: Q9Y5Q3
- Genatlas: MAFB
- Ensembl: ENSG00000204103
- IUPHAR-DB: -
- Reactome: Q9Y5Q3
- LOVD: MAFB
Diseases list
- Disease-causing germline mutation(s) in Duane retraction syndrome with congenital deafness
ORPHA:529574 
- Disease-causing germline mutation(s) in Multicentric carpo-tarsal osteolysis with or without nephropathy
ORPHA:2774 - Disease-causing germline mutation(s) (loss of function) in Duane retraction syndrome
ORPHA:233
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
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