Protein Name EGF containing fibulin extracellular matrix protein 1
Organism Homo sapiens
Gene ID 2202
Gene Symbol

EFEMP1

UniProt Q12805 (FBLN3_HUMAN), A0A0S2Z3V1 (A0A0S2Z3V1_HUMAN), A0A0S2Z4F1 (A0A0S2Z4F1_HUMAN), B2R6M6 (B2R6M6_HUMAN)
Relationships Total Number of functionally related compound(s) : 54
Total Number of Articles : 45
Description

EGF containing fibulin extracellular matrix protein 1

Gene Summary

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.[provided by RefSeq, Nov 2009]

synonyms
  • EGF-containing fibulin-like extracellular matrix protein 1
  • EGF containing fibulin like extracellular matrix protein 1
  • extracellular protein S1-5
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Properties