MAFA Chromosome 8
MAF bZIP transcription factor A
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What This Gene Does
MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Large MAF bZIP transcription factor family
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000182759
Associated Conditions (1)
Islet cell adenomatosis
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554635488 | Health Risk | Likely pathogenic | Islet cell adenomatosis, Islet cell adenomatosis |
| RS1819520149 | Health Risk | Pathogenic | Islet cell adenomatosis, Islet cell adenomatosis |