EFEMP1 gene

EGF containing fibulin like extracellular matrix protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.

From NCBI Gene:

  • Doyne honeycomb retinal dystrophy

From UniProt:

Doyne honeycomb retinal dystrophy (DHRD): Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. [MIM:126600]

Cytogenetic Location: 2p16.1, which is the short (p) arm of chromosome 2 at position 16.1

Molecular Location: base pairs 55,865,962 to 55,924,163 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p16.1, which is the short (p) arm of chromosome 2 at position 16.1
  • DHRD
  • DRAD
  • FBLN3
  • FBNL
  • FIBL-3
  • MLVT
  • MTLV
  • S1-5