MAFB encodes MAF bZIP transcription factor B (323 aa). Acts as a transcriptional activator or repressor. Highest expression in Spleen (181.0 TPM) and Skin Sun Exposed Lower leg (133.1 TPM).

Multicentric carpo-tarsal osteolysis with or without nephropathy is associated with mutations in the MAFB gene on chromosome 20.

The MAFB protein participates in MAFB (KREISLER) and HOXB1:PBX1:PKNOX1 (HOXB1:PBX1:PREP1) activate HOXA3 expression, MAFB:JUN and EGR2 activate HOXB3 expression, and MAFB, HOXB1:PBX1:PKNOX1 at active HOXA3 chromatin pathways.

MAFB is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 0.0.

Genetic testing for MAFB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for multicentric carpo-tarsal osteolysis with or without nephropathy has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 14 very common features, 5 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for multicentric carpo-tarsal osteolysis with or without nephropathy.

248 publications have been identified in PubMed for multicentric carpo-tarsal osteolysis with or without nephropathy. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (35%), and Epidemiology / Natural History (9%).

Recent Publications

• Tuttle KR (2026). [PMID: 41054018](https://pubmed.ncbi.nlm.nih.gov/41054018/). *Diabetes Obes Metab*. [Review / Meta-Analysis]

• Mashayekhi M (2026). [PMID: 41410808](https://pubmed.ncbi.nlm.nih.gov/41410808/). *Clin Exp Nephrol*. [Review / Meta-Analysis]

• Delrue C (2026). [PMID: 41898722](https://pubmed.ncbi.nlm.nih.gov/41898722/). *Int J Mol Sci*. [Review / Meta-Analysis]

• Kim D (2026). [PMID: 41658793](https://pubmed.ncbi.nlm.nih.gov/41658793/). *Cureus*. [Case Report / Case Series]

• Kurzhagen JT (2026). [PMID: 41765179](https://pubmed.ncbi.nlm.nih.gov/41765179/). *Kidney Int*. [Review / Meta-Analysis]

• Li L (2026). [PMID: 41749115](https://pubmed.ncbi.nlm.nih.gov/41749115/). *BMC Nephrol*. [Review / Meta-Analysis]

• Zhao Z (2026). [PMID: 41569692](https://pubmed.ncbi.nlm.nih.gov/41569692/). *JCI Insight*. [Diagnostic / Biomarker]

• Ma Y (2026). [PMID: 41106506](https://pubmed.ncbi.nlm.nih.gov/41106506/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

• Hou Q (2026). [PMID: 41811985](https://pubmed.ncbi.nlm.nih.gov/41811985/). *Sci Transl Med*. [Basic Science / Preclinical]

• Nayak SPRR (2026). [PMID: 41689710](https://pubmed.ncbi.nlm.nih.gov/41689710/). *Mol Cell Biochem*. [Basic Science / Preclinical]