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COMMAD
Chr 3ARmelanocyte inducing transcription factor
Also known as: CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
The encoded protein is a transcription factor containing basic helix-loop-helix and leucine zipper domains that regulates melanocyte development and controls pigment cell-specific transcription of melanogenesis enzyme genes. Mutations cause COMMAD syndrome, which is inherited in an autosomal recessive pattern. This gene is also associated with auditory-pigmentary features affecting both hearing and pigmentation.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/COMMAD?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COMMAD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools