Gene: LOC112268416

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: EFEMP1

Alternate names for this Gene: DHRD|DRAD|FBLN3|FBNL|FIBL-3|MLVT|MTLV|S1-5

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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.1

Description of this Gene: EGF containing fibulin extracellular matrix protein 1

Type of Gene: protein-coding