EFEMP2

Name

EGF-like fibulin extracellular matrix protein 2

Type

protein-coding

Position

65,866,300–65,878,497 (−)

Aliases

ARCL1B, FBLN4, MBP1, UPH1

Ensembl

ENSG00000172638

RefSeq RNA

NM_016938.5, NR_037718.2

RefSeq protein

NP_058634.4

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011].

via MyGene.info

Wikidata facts

Instance of

gene

Image

EFEMP2 protein.png

via Wikidata · CC0