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SMARCAD1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SMARCAD1 gene

The SMARCAD1 gene provides instructions for creating proteins that maintain genetic stability and play a critical role in the formation of unique fingerprint patterns.

Normal Function

The SMARCAD1 gene provides instructions for making two versions (isoforms) of the SMARCAD1 protein: a full-length isoform and a shorter, skin-specific isoform.

  • The full-length isoform is active in multiple tissues, where it regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information.
  • The skin-specific isoform is expressed only in skin cells. It appears to play a critical role in the formation of dermatoglyphs, which are the patterns of skin ridges on the pads of the fingers, toes, palms, and soles. These patterns form the basis for each person's unique fingerprints and develop before birth.

Health Conditions Related to Genetic Changes

Adermatoglyphia

At least four mutations in the SMARCAD1 gene have been found to cause adermatoglyphia, the absence of dermatoglyphs on the hands and feet. Affected individuals cannot be identified by fingerprints. This condition may occur in isolation or be associated with other features, typically affecting the skin.

These mutations affect the skin-specific isoform of the protein but not the full-length isoform. Researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways necessary for normal skin development and the formation of dermatoglyphs.

Other Names for This Gene

  • ADERM
  • ATP-dependent helicase 1
  • ETL1
  • HEL1
  • SMRCD_HUMAN

Genomic Location

The SMARCAD1 gene is found on chromosome 4.

Frequently Asked Questions

dermatoglyphia, the absence of fingerprints, is caused by mutations that specifically disrupt the skin‑specific isoform of the SMARCAD1 protein. This isoform is essential for the signaling pathways that shape the ridges on the skin during fetal development, so when it is missing or non‑functional, dermatoglyphs fail to form.
dermatoglyphia is currently considered a benign, cosmetic condition. There is no medical treatment to create fingerprints after birth. Management focuses on alternative identification methods (e.g., retinal scans, DNA profiling) and counseling about potential legal or security implications.
Most reported cases involve isolated adermatoglyphia, but some individuals exhibit mild skin abnormalities such as dry skin or mild eczema. No consistent systemic disorders have been linked to SMARCAD1 mutations, and patients typically have normal growth and development.
Diagnosis starts with a physical examination noting the lack of fingerprints and other skin ridges. Genetic testing, usually through targeted sequencing of the SMARCAD1 gene, confirms pathogenic variants. A skin biopsy is rarely needed unless the mutation’s effect on the skin‑specific isoform is unclear.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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