MESP1 Chromosome 15
Mesoderm posterior bHLH transcription factor 1
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What This Gene Does
Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in myocardial infarction. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000166823
Associated Conditions (1)
MESP1-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202109366 | Health Risk | Conflicting classifications of pathogenicity | MESP1-related disorder, MESP1-related disorder |
| RS574957190 | Health Risk | Conflicting classifications of pathogenicity | MESP1-related disorder, MESP1-related disorder |