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

rs886037765 in FRAS1 gene and FRASER SYNDROME 1 PMID 27280866 2016 De novo mutations in autosomal recessive congenital malformations.

rs1268789 in FRAS1 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs150303591 in FRAS1 gene and ovarian neoplasm PMID 27047539 2016 Genome-Wide Study of Response to Platinum, Taxane, and Combination Therapy in Ovarian Cancer: In vitro Phenotypes, Inherited Variation, and Disease Recurrence.