FRAS1

The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.

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).

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.

Belongs to the FRAS1 family.

Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.

• Cell membrane
• Single-pass type I membrane protein
• Extracellular side

KIAA1500, FRAS1, Extracellular matrix organizing protein FRAS1, Fraser syndrome 1 protein

• entrezGene:80144
• omim:607830
• swissprot:Q86XX4

Proteins

443214Da