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SMOC1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SMOC1 gene

The SMOC1 gene provides instructions for creating a protein that regulates growth factors essential for skeletal, limb, and eye development.

Normal Function

The SMOC1 gene provides instructions for making the secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin structures that support and anchor cells during embryonic development. SMOC-1 binds to various proteins and is thought to regulate growth factors that stimulate tissue development throughout the body. These growth factors are critical for skeletal formation, limb patterning, and eye development. Additionally, SMOC-1 likely promotes the maturation of osteoblasts, the cells responsible for building bone.

Health Conditions Related to Genetic Changes

Ophthalmo-acromelic syndrome

At least 12 mutations in the SMOC1 gene have been found to cause ophthalmo-acromelic syndrome, a condition characterized by malformations of the eyes, hands, and feet. Most of these mutations result in a nonfunctional SMOC-1 protein. The loss of this protein disrupts growth factor signaling, impairing the normal development of the skeleton, limbs, and eyes.

Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

Other Names for This Gene

  • secreted modular calcium-binding protein 1
  • SMOC1_HUMAN
  • SPARC-related modular calcium-binding protein 1

Frequently Asked Questions

Diagnosis combines a detailed physical examination (noting limb malformations such as brachydactyly or syndactyly) with ophthalmologic assessment, followed by molecular genetic testing that sequences the SMOC1 gene to detect pathogenic variants.
The hallmark eye findings include bilateral microphthalmia or anophthalmia, coloboma of the iris or retina, and sometimes cataracts. Visual impairment ranges from mild to severe, depending on the extent of the structural defects.
Currently, treatment is supportive. Early ophthalmology care (e.g., corrective lenses, surgery for cataracts or coloboma) can maximize visual function, while orthopedic or reconstructive surgery may address limb anomalies. Research into targeted molecular therapies is still in preclinical stages.
If both parents are carriers of a recessive SMOC1 mutation, each subsequent pregnancy carries a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Prenatal carrier testing or pre‑implantation genetic diagnosis can be discussed with a genetics counselor.
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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