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- Table of Contents
Facts about Extracellular matrix protein FRAS1.
Human | |
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Gene Name: | FRAS1 |
Uniprot: | Q86XX4 |
Entrez: | 80144 |
Belongs to: |
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FRAS1 family |
DKFZp686I05113; extracellular matrix protein FRAS1; FLJ14927; FLJ22031; Fraser syndrome 1; KIAA1500DKFZp686P08111
Mass (kDA):
443.214 kDA
Human | |
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Location: | 4q21.21 |
Sequence: | 4; NC_000004.12 (78057323..78544269) |
Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.
Cell membrane; Single-pass type I membrane protein; Extracellular side.
PMID: 12766769 by McGregor L.K., et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
PMID: 23473829 by Hoefele J., et al. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.