XB-FEAT-1012536

efemp1

This is the community wiki page for the gene efemp1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

10/17/17

Human name has changed for Entrez Gene: 2202. From EGF containing fibulin like extracellular matrix protein 1 to EGF containing fibulin extracellular matrix protein 1

summary from NCBI

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]