FRAS1

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.[5][6] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.

FRAS1
Identifiers
AliasesFRAS1, Fraser extracellular matrix complex subunit 1, FRASRS1
External IDsOMIM: 607830 MGI: 2385368 HomoloGene: 23516 GeneCards: FRAS1
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q21.21Start78,057,323 bp[1]
End78,544,269 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

80144

231470

Ensembl

ENSG00000138759

ENSMUSG00000034687

UniProt

Q86XX4

Q80T14

RefSeq (mRNA)

NM_001166133
NM_020875
NM_025074
NM_032863
NM_206841

NM_175473

RefSeq (protein)

NP_001159605
NP_079350

NP_780682

Location (UCSC)Chr 4: 78.06 – 78.54 MbChr 5: 96.37 – 96.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in this gene have been observed to cause fraser syndrome.[7]

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See also

References

  1. GRCh38: Ensembl release 89: ENSG00000138759 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034687 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Fraser syndrome 1".
  6. 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.
  7. "Fraser syndrome 1". February 23, 2010. Retrieved May 17, 2010.

Further reading

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