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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: EGF containing fibulin-like extracellular matrix protein 1; EGF-containing fibulin-like extracellular matrix protein 1; Extracellular protein S1-5; FIBL-3; Fibrillin-like protein; Fibulin-3; FLJ35535; MGC111353
Gene Aliases: DHRD; DRAD; EFEMP1; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
UniProt ID: (Human) Q12805
Entrez Gene ID: (Human) 2202
Molecular Function: extracellular matrix structural protein