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MAF - MAF bZIP transcription factor

Synonym(s) : c-MAF
Previous symbols and names : v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
Type : gene with protein product
Chromosomal location : 16q23.2
OMIM: 177075
HGNC: 6776
UniProtKB: O75444
Genatlas: MAF
Ensembl: ENSG00000178573
IUPHAR-DB: -
Reactome: -
LOVD: MAF

Diseases list

Disease-causing germline mutation(s) in Aymé-Gripp syndrome ORPHA:1272
Disease-causing germline mutation(s) in Cataract-microcornea syndrome ORPHA:1377
Disease-causing germline mutation(s) in Cerulean cataract ORPHA:98989
Disease-causing germline mutation(s) in Pulverulent cataract ORPHA:98984

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (26)

Research activities on this gene

Specialised Social Services

Eurordis directory

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