Gene: FRAS1
Alternate names for this Gene: FRASRS1
Gene Summary: This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 4
Location in Chromosome : 4q21.21
Description of this Gene: Fraser extracellular matrix complex subunit 1
Type of Gene: protein-coding