FRAS1
Domain
The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
Function
Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By similarity). Involved in brain organization and function (By similarity).
Involvement in disease
Fraser syndrome 1
FRASRS1
A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FRAS1 family.
Tissue Specificity
Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Extracellular side
Alternative names
KIAA1500, FRAS1, Extracellular matrix organizing protein FRAS1, Fraser syndrome 1 protein