MAF Chromosome 16
MAF bZIP transcription factor
Upload your DNA to see your personal genotypes for variants in MAF.
What This Gene Does
The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Large MAF bZIP transcription factor family
Locus Type
gene with protein product
Location
16q23.2
Ensembl
ENSG00000178573
Associated Conditions (5)
Cataract 21 multiple types
Ayme-Gripp syndrome
Inborn genetic diseases
MAF-related disorder
Developmental cataract
Key Variants
RS1022938471
Conflicting classifications of pathogenicity
Cataract 21 multiple types, Ayme-Gripp syndrome, Inborn genetic diseases
Health Risk
RS1210195937
Conflicting classifications of pathogenicity
Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types
Health Risk
RS1262562851
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771268967
Conflicting classifications of pathogenicity
Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types
Health Risk
RS887468453
Conflicting classifications of pathogenicity
Cataract 21 multiple types, Ayme-Gripp syndrome, Inborn genetic diseases
Health Risk
RS1057518878
Likely pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS1555530080
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1913779276
Likely pathogenic
Cataract 21 multiple types, Cataract 21 multiple types
Health Risk
RS1913782042
Likely pathogenic
Health Risk
RS2143800981
Likely pathogenic
Cataract 21 multiple types, Cataract 21 multiple types
Health Risk
RS2143816916
Likely pathogenic
Cataract 21 multiple types, Cataract 21 multiple types
Health Risk
RS2507655460
Likely pathogenic
MAF-related disorder, MAF-related disorder
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1022938471 | Health Risk | Conflicting classifications of pathogenicity | Cataract 21 multiple types, Ayme-Gripp syndrome, Inborn genetic diseases |
| RS1210195937 | Health Risk | Conflicting classifications of pathogenicity | Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types |
| RS1262562851 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771268967 | Health Risk | Conflicting classifications of pathogenicity | Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types |
| RS887468453 | Health Risk | Conflicting classifications of pathogenicity | Cataract 21 multiple types, Ayme-Gripp syndrome, Inborn genetic diseases |
| RS1057518878 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS1555530080 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1913779276 | Health Risk | Likely pathogenic | Cataract 21 multiple types, Cataract 21 multiple types |
| RS1913782042 | Health Risk | Likely pathogenic | — |
| RS2143800981 | Health Risk | Likely pathogenic | Cataract 21 multiple types, Cataract 21 multiple types |
| RS2143816916 | Health Risk | Likely pathogenic | Cataract 21 multiple types, Cataract 21 multiple types |
| RS2507655460 | Health Risk | Likely pathogenic | MAF-related disorder, MAF-related disorder |
| RS727502768 | Health Risk | Likely pathogenic | Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502770 | Health Risk | Likely pathogenic | Ayme-Gripp syndrome, Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502771 | Health Risk | Likely pathogenic | Ayme-Gripp syndrome, Ayme-Gripp syndrome, Cataract 21 multiple types |
| RS786205222 | Health Risk | Likely pathogenic | Cataract 21 multiple types, Cataract 21 multiple types |
| RS864309678 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS864309692 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS864309695 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS121917735 | Health Risk | Pathogenic | Cataract 21 multiple types, Cataract 21 multiple types |
| RS121917736 | Health Risk | Pathogenic | Cataract 21 multiple types, Cataract 21 multiple types |
| RS1555530022 | Health Risk | Pathogenic | Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types |
| RS1555530054 | Health Risk | Pathogenic | — |
| RS1597847611 | Health Risk | Pathogenic | Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types |
| RS727502766 | Health Risk | Pathogenic | Ayme-Gripp syndrome, MAF-related disorder, Ayme-Gripp syndrome |
| RS727502767 | Health Risk | Pathogenic | Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502769 | Health Risk | Pathogenic | Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS1481963503 | Health Risk | Pathogenic/Likely pathogenic | Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types |
| RS1913781557 | Health Risk | Pathogenic/Likely pathogenic | Ayme-Gripp syndrome, Cataract 21 multiple types, Inborn genetic diseases |
| RS786205221 | Health Risk | Pathogenic/Likely pathogenic | Cataract 21 multiple types, Cataract 21 multiple types, Ayme-Gripp syndrome |