EFEMP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EFEMP1 wild-type allele is located in the vicinity of 2p16 and is approximately 58 kb in length. This allele, which encodes EGF-containing fibulin-like extracellular matrix protein 1, plays a role in cell surface receptor binding. Aberrant expression of the gene is associated with glioma. Mutation of the gene is associated with Doyne honeycomb retinal dystrophy.

**Synonyms:** - DHRD - DRAD - EGF Containing Fibulin Like Extracellular Matrix Protein 1 wt Allele - EGF Containing Fibulin-Like Extracellular Matrix Protein 1 Gene - FBLN3 - FBNL - FIBL-3 - Fibrillin-Like Gene - Fibulin 3 Gene - MLVT - MTLV - S1-5