Fibulin 5

Alternative Names

  • FBLN5
  • Developmental Arteries and Neural Crest EGF-Like
  • DANCE
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OMIM Number

604580

NCBI Gene ID

10516

Uniprot ID

Q9UBX5

Length

78,577 bases

No. of Exons

14

No. of isoforms

1

Protein Name

Fibulin 5

Molecular Mass

50180 Da

Amino Acid Count

448

Genomic Location

chr14:91,869,411-91,947,987

Gene Map Locus
14q32.12

Description

The FBLN5 gene encodes Fibulin 5, an extracellular matrix protein that is essential for the organisation of elastic fibres. Expression of the protein is particularly seen in developing arteries, heart valves, lungs and skin.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006329.3:c.649T>CLebanonchr14:91887283PathogenicPathogenicCutis Laxa, Autosomal Recessive, Type IA NG_008254.1:g.65420T>C; NM_006329.3:c.649T>C; NP_006320.2:p.Cys217Arg8033876621454
NM_006329.3:c.901C>ALebanonchr14:91881380Uncertain SignificanceLikely PathogenicCutis Laxa, Autosomal Recessive, Type IA NG_008254.1:g.71323C>A; NM_006329.3:c.901C>A; NP_006320.2:p.Leu301Met377360782888450
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