COMMAD

Chr 3AR

melanocyte inducing transcription factor

Also known as: CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32

NCBI Gene: 4286

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

Primary Disease Associations & Inheritance

COMMAD syndromeMIM #617306
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— COMMAD
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

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

COMMAD syndrome

MIM #617306

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George A et al.·Am J Hum Genet
2016Case report
Metabolic heterogeneity protects metastatic mucosal melanomas cells from ferroptosis.
Lin W et al.·Int J Mol Med
2022
Amphiregulin regulates proliferation and migration of HER2-positive breast cancer cells.
Schmucker H et al.·Cell Oncol (Dordr)
2018
Switching of G-protein usage by the calcium-sensing receptor reverses its effect on parathyroid hormone-related protein secretion in normal versus malignant breast cells.
Mamillapalli R et al.·J Biol Chem
2008
Changes in the cytologic distribution of heparin/heparan sulfate interacting protein/ribosomal protein L29 (HIP/RPL29) during in vivo and in vitro mouse mammary epithelial cell expression and differentiation.
Kirn-Safran CB et al.·Dev Dyn
2002Functional
Irradiated mammary gland stroma promotes the expression of tumorigenic potential by unirradiated epithelial cells.
Barcellos-Hoff MH et al.·Cancer Res
2000
Identification of a 15,000-molecular-weight form of immunoreactive transforming growth factor alpha in extracts of porcine pituitary.
Riss TL et al.·J Cell Physiol
1989
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools