Snf2 related CREBBP activator protein
1. Normal Function
The SRCAP gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene, called CREB binding protein, plays a key role in regulating cell growth and division and is important for normal development.
2. Health Conditions Related to Genetic Changes
2.1. Floating-Harbor syndrome
At least five SRCAP gene mutations have been identified in people with Floating-Harbor syndrome, a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The SRCAP gene mutations that cause Floating-Harbor syndrome may result in an altered protein that interferes with normal activation of the CREBBP gene, resulting in problems in development. However, the relationship between SRCAP gene mutations and the specific signs and symptoms of Floating-Harbor syndrome is unknown.
3. Other Names for This Gene
domino homolog 2
Snf2-related CBP activator protein
Snf2-related CREBBP activator protein
Swi2/Snf2-related ATPase homolog, domino homolog 1
The entry is from https://medlineplus.gov/genetics/gene/srcap
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