SMOC1
SPARC related modular calcium binding 1
Normal Function
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 that results in malformations of the eyes, hands, and feet. Most of these mutations likely result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the signs and symptoms of ophthalmo-acromelic syndrome.
More About This Health ConditionRelated Conditions
Ophthalmo-acromelic syndromeColoboma
Health Conditions Related to Genetic Changes
At least 12 mutations in the SMOC1 gene have been found to cause ophthalmo-acromelic syndrome, a condition that results in malformations of the eyes, hands, and feet. Most of these mutations likely result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the signs and symptoms of ophthalmo-acromelic syndrome.
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