EFEMP1

Name

EGF-like fibulin extracellular matrix protein 1

Type

protein-coding

Position

55,865,962–55,924,271 (−)

Aliases

ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5

Ensembl

ENSG00000115380

RefSeq RNA

NM_001039348.3, NM_001039349.3, NM_001445633.1, NM_001445634.1, NM_001445635.1

RefSeq protein

NP_001034437.1, NP_001034438.1, NP_001432562.1, NP_001432563.1, NP_001432564.1

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].

via MyGene.info

Gene · Ensembl

EGF containing fibulin extracellular matrix protein 1

Symbol

EFEMP1

Biotype

Protein coding

Organism

Homo sapiens

Location

2:55,810,992-55,924,271

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0