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FRAS1 Fraser extracellular matrix complex subunit 1

Gene ID: 80144, updated on 2-Nov-2024
Gene type: protein coding
Also known as: FRASRS1

Summary

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
GeneReviews: Not available
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
GeneReviews: Not available
Fraser syndrome 1
MedGen: C4551480OMIM: 219000GeneReviews: Not available
See labs

Genomic context

Location:
4q21.21
Sequence:
Chromosome: 4; NC_000004.12 (78057323..78544269)
Total number of exons:
74

Links

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