FRAS1

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FRAS1
Identifiers
Aliases FRAS1
External IDs MGI: 2385368 HomoloGene: 23516 GeneCards: FRAS1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001166133
NM_020875
NM_025074
NM_032863
NM_206841

NM_175473

RefSeq (protein)

NP_001159605
NP_079350

NP_780682.3
NP_780682

Location (UCSC) Chr 4: 78.06 – 78.54 Mb Chr 5: 96.37 – 96.78 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.[3][4] 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.[5]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: Fraser syndrome 1". 
  4. ^ 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. 
  5. ^ "Fraser syndrome 1". February 23, 2010. Retrieved May 17, 2010. 

Further reading[edit]