FRAS1 Gene

Alternative Names

  • FRAS1
  • KIAA1500

Associated Diseases

Fraser Syndrome 1
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OMIM Number

607830

NCBI Gene ID

80144

Uniprot ID

443214 Da

Length

487,302 bases

No. of Exons

74

No. of isoforms

5

Protein Name

Extracellular matrix protein FRAS1

Molecular Mass

443214 Da

Amino Acid Count

4008

Genomic Location

chr4:78,056,968-78,544,269

Gene Map Locus
4q21.21

Description

FRAS1 gene encodes an extracellular matrix (ECM) protein, which regulates epidermal-basement membrane adhesion and organogenesis during development. This protein is predicted to be 4,008 amino acids long with an N-terminal signal peptide followed by VWFC domains, furin-like domains, an NG2-like region, CALX-beta motifs, a transmembrane domain, and an intracellular tail. Alternative splicing leads to multiple variants.
 
Mutations in FRAS1 gene cause Fraser syndrome 1 and renal hypodysplasia/aplasia 3.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_025074.6:c.3799C>TLebanonNC_000004.12:g.78387525C>TPathogenicPathogenicFraser Syndrome 1NG_015812.1:g.334956C>T; NM_025074.6:c.3799C>T; NP_079350.5:p.Gln1267Ter1200741582812
NM_025074.7:c.2128A>TArabNC_000004.12:g.78318977A>TBenignBenignNG_015812.2:g.266408A>T; NM_025074.7:c.2128A>T; NP_079350.5:p.Ile710Leu345512349691
NM_025074.7:c.9524A>CUnited Arab EmiratesNC_000004.12:g.78508750A>CLikely PathogenicFraser Syndrome 1NG_015812.2:g.456181A>C; NM_025074.7:c.9524A>C; NP_079350.5:p.Tyr3175Ser
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