MAFA MAF bZIP transcription factor A
Gene ID: 389692, updated on 8-Oct-2024Gene type: protein coding
Also known as: INSDM; hMafA; RIPE3b1
- See all available tests in GTR for this gene
- Go to complete Gene record for MAFA
- Go to Variation Viewer for MAFA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Islet cell adenomatosis | See labs |
Genomic context
- Location:
- 8q24.3
- Sequence:
- Chromosome: 8; NC_000008.11 (143428064..143430732, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAFA 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
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.