Overview
MC1R encodes a receptor that controls melanin production in the skin and hair. Loss-of-function variants lead to red hair, fair skin, freckles, and increased UV sensitivity.
16q24.3 (Chromosome 16)
Appearance
Autosomal recessive (red hair)
1-2% red hair (Europe)
Function & Significance
The MC1R receptor regulates which type of melanin is produced:
- Eumelanin: Brown/black pigment (produced by functional MC1R)
- Pheomelanin: Red/yellow pigment (produced by defective MC1R)
🧬 Genetics of Red Hair
Red hair is caused by:
- Two defective MC1R copies: Classic red hair
- One defective copy: Can lead to a reddish tint
- Over 100 MC1R variants: Various shades of red
- Most common variants: R151C, R160W, D294H
Interesting Fact: Redheads have the highest concentration in Scotland (~13%) and Ireland (~10%)!
🧬 Relevant SNPs
Common MC1R variants for red hair:
16:89985940
/
Significance: R151C – one of the most common red hair variants
• TT: Red hair, very fair skin, freckles
• CT: Carrier, may have a reddish tint
• CC: Normal
16:89985918
/
Significance: R160W – another common red hair variant
• TT: Red hair, fair skin type
• CT: Carrier
☀️ Health Risks
MC1R variants increase the risk for:
- Melanoma: 2-4 fold increased risk
- Basal Cell Carcinoma: Increased skin cancer risk
- Sunburn: Very high UV sensitivity
- Skin Aging: Earlier wrinkle formation
Important: Consistent sun protection (SPF 50+), regular skin checks, and staying in the shade are recommended!
💊 Other Characteristics
MC1R carriers also have:
- Higher Pain Sensitivity: Require ~20% more anesthesia
- Vitamin D Production: More efficient production in low sunlight
- Cold Sensitivity: React more strongly to cold
📚 Data Sources
The information on this page is based on the following scientific sources:
- OMIM: #155555 – Online Mendelian Inheritance in Man
- dbSNP: rs1805007, rs1805008 – SNP Database (NCBI)
- ClinVar: Clinical Variant Database (NCBI)
- PubMed: MC1R and Melanoma Research
- Nature Genetics: Red Hair Genetics
Last Update: February 2026
Biological Function
Associated Conditions
Analyzed Markers
R151C - TT: red hair, fair skin, freckles
R160W - another variant for red hair and fair skin type