FRAS1

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Fraser syndrome 1
Identifiers
Symbols FRAS1 ; DKFZp686I05113; DKFZp686P08111; FLJ14927; FLJ22031; KIAA1500
External IDs OMIM607830 MGI2385368 HomoloGene23516 GeneCards: FRAS1 Gene
Orthologs
Species Human Mouse
Entrez 80144 231470
Ensembl ENSG00000138759 ENSMUSG00000034687
UniProt Q86XX4 Q80T14
RefSeq (mRNA) NM_001166133 NM_175473
RefSeq (protein) NP_001159605 NP_780682
Location (UCSC) Chr 4:
78.98 – 79.47 Mb
Chr 5:
96.37 – 96.78 Mb
PubMed search [1] [2]

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.[1][2] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.

Clinical significance[edit]

Mutations in this gene is observed to cause fraser syndrome.[3]

References[edit]

  1. ^ "Entrez Gene: Fraser syndrome 1". 
  2. ^ McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ (June 2003). "Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein". Nat. Genet. 34 (2): 203–8. doi:10.1038/ng1142. PMID 12766769. 
  3. ^ "Fraser syndrome 1". February 23, 2010. Retrieved May 17, 2010. 

Further reading[edit]

See also[edit]