Gene
MAF
MAF bZIP transcription factor
- HGNC 6776↗(opens in a new tab)
- Ensembl gene ENSG00000178573↗(opens in a new tab)
- NCBI Gene 4094↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q23.2
- Coordinates
- Chromosome 16: 79,593,838–79,600,737 (GRCh38)
- Exons
- 2 exons across 6.9 kb
- Protein
- 403 amino acids
- Also known as
- c-MAF
- MANE Select transcript
- ENST00000326043.5NM_005360.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Hereditary Congenital & Juvenile Cataract
- Early-Onset Non-Syndromic Cataract
Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.
How MAF is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.7 kb of the gene's 6.9 kb; 1,212 of those bases code for the protein.
How a genome test reads MAF
16
positions in MAF where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 6.9 kb of MAF, introns included, not only the 2.7 kb of exons.
Genes linked to the same conditions
- BFSP1beaded filament structural protein 1Shares 1 condition
- CHMP4Bcharged multivesicular body protein 4BShares 1 condition
- CRYABcrystallin alpha BShares 1 condition
- CRYBA1crystallin beta A1Shares 1 condition
- CRYBA2crystallin beta A2Shares 1 condition
- CRYBA4crystallin beta A4Shares 1 condition
- CRYBB1crystallin beta B1Shares 1 condition
- CRYBB3crystallin beta B3Shares 1 condition
- CRYGScrystallin gamma SShares 1 condition
- EPHA2EPH receptor A2Shares 1 condition
- GCNT2glucosaminyl (N-acetyl) transferase 2 (I blood group)Shares 1 condition
- GJA3gap junction protein alpha 3Shares 1 condition
Traits linked to MAF
The Human Phenotype Ontology lists these as features of the rare conditions MAF can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Midface retrusion
- Flat face
- Short nose
- Abnormal dentition
- Asymmetric crying face
- Asymmetry of the posterior head
- Broad eyebrow
- Broad head shape
Show 23 more traits
- Cleft palate
- Decreased depth of eye sockets
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Failure of development of more than six teeth
- High forehead
- Long philtrum
- Narrow mouth
- Prominent metopic ridge
- Sparse scalp hair
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Wide fontanelles
- Abnormality of craniofacial shape
- Big lower jaw
- Deformity of the skull
- Delayed cranial suture closure
- J-shaped sella turcica
- Long eyelashes
- Broad philtrum
- Smooth philtrum
- Wide nasal bridge
- Zygomatic flattening
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MAF gene: MAF bZIP transcription factor. Retrieved 17 October 2026, from https://dantelabs.com/genes/maf
Dante Labs. MAF gene: MAF bZIP transcription factor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/maf
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