EGF-Containing Fibulin-Like Extracellular Matrix Protein 1

Alternative Names

  • EFEMP1
  • Fibrillin-Like
  • FBNL
  • Fibulin 3
  • FBLN3
  • S1-5
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OMIM Number

601548

NCBI Gene ID

2202

Uniprot ID

Q12805

Length

58,197 bases

No. of Exons

12

No. of isoforms

5

Protein Name

EGF-containing fibulin-like extracellular matrix protein 1

Molecular Mass

54641 Da

Amino Acid Count

493

Genomic Location

chr2:55,865,966-55,924,162

Gene Map Locus
2p16.1

Description

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[from RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001039348.2:c.163T>CLebanonNC_000002.12:g.55918019A>GUncertain SignificanceLikely PathogenicCutis Laxa, Autosomal Recessive, Type IDNG_009098.1:g.10779T>C; NM_001039348.2:c.163T>C; NP_001034437.1:p.Cys55Arg1572851186655652
NM_001039348.3:c.1033C>TSaudi ArabiaNC_000002.12:g.55871091G>ALikely Pathogenic, PathogenicPathogenicDoyne Honeycomb Retinal DystrophyNG_009098.1:g.57707C>T; NM_001039348.3:c.1033C>T; NP_001034437.1:p.Arg345Trp1214344918072
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