Name | Fraser syndrome 1 |
Symbol | FRAS1 |
Aliases | FLJ14927; FLJ22031; KIAA1500; extracellular matrix protein |
Gene Product | - Fraser syndrome 1 isoform 4
- Fraser syndrome 1 isoform 1
- Fraser syndrome 1 isoform 2
- Fraser syndrome 1 isoform 3
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Category | |
UniGene |
Hs.15420
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Reference Sequence |
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OMIM and SNP |
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Locus |
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Summary | The FRAS1 gene encodes a putative extracellular matrix (ECM) protein and is mutated in Fraser syndrome (MIM 219000) (McGregor et al., 2003 [PubMed 12766769]).[supplied by OMIM] |
Expression | EST (130 ESTs, 63 libraries) |
Tissue | Breadth ? |
CPM ? |
bone | | | brain | | | cartilage | | | colon | | | eye | | | head and neck | | | heart | | | kidney | | | liver | | | lung | | | mammary gland | | | muscle | | | nervous | | | ovary | | | placenta | | | skin | | | stomach | | | testis | | | uncharacterized tissue | | | uterus | | | vascular | | |
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SAGE (5982267 tags, 111 libraries) |
Tissue | Breadth ? |
CPM ? |
blood | | | brain | | | cervix | | | colon | | | eye | | | heart | | | kidney | | | liver | | | lung | | | mammary gland | | | muscle | | | nervous | | | ovary | | | pancreas | | | prostate | | | skin | | | stomach | | | uncharacterized tissue | | | vascular | | |
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Evidence | Mutation in System Syndrom with Kidney Involvment
- 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 Fraser syndrome and mouse blebbed phenotype caused by mutations inFRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 2003 Jun;34(2):203-8.
Other key publications related to this gene
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