MAF MAF bZIP transcription factor
Gene ID: 4094, updated on 2-Nov-2024Gene type: protein coding
Also known as: CCA4; AYGRP; c-MAF; CTRCT21
- See all available tests in GTR for this gene
- Go to complete Gene record for MAF
- Go to Variation Viewer for MAF variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available | |
| Ayme-Gripp syndrome | See labs |
| Cataract 21 multiple types | See labs |
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. GeneReviews: Not available | |
| Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. GeneReviews: Not available | |
| Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. GeneReviews: Not available |
Genomic context
- Location:
- 16q23.2
- Sequence:
- Chromosome: 16; NC_000016.10 (79202622..79600737, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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