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efemp1

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Official Full Name
EGF containing fibulin-like extracellular matrix protein 1
Background
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.
Synonyms
EFEMP1; EGF containing fibulin-like extracellular matrix protein 1; DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3; EGF-containing fibulin-like extracellular matrix protein 1; fibulin-3; extracellular protein S1-5; DHRD, EGF containing fibulin like extracellular matrix protein 1 , FBNL, fibrillin like; fibulin 3; S1 5; FLJ35535; MGC111353

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