FRAS1 Fraser extracellular matrix complex subunit 1
Gene ID: 80144, updated on 5-Mar-2024Gene type: protein coding
Also known as: FRASRS1
- See all available tests in GTR for this gene
- Go to complete Gene record for FRAS1
- Go to Variation Viewer for FRAS1 variants
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
| Description | Tests |
|---|---|
| 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 | See labs |
Genomic context
- Location:
- 4q21.21
- Sequence:
- Chromosome: 4; NC_000004.12 (78057323..78544269)
- Total number of exons:
- 74
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FRAS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FRAS1 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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