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]
EGF containing fibulin extracellular matrix protein 1
Bone marrow & Lymphoid tissuesBrainBreast and female reproductive systemConnective & Soft tissueEndocrine tissuesEyeGastrointestinal tractKidney & Urinary bladderLiver & GallbladderLymphoidMale reproductive systemMuscle tissuesMyeloidPancreasProximal digestive tractRespiratory systemSkin
* nTPM: Normalized TPM levels represent consensus gene expression calculated using two data sets. Read more RNA data sourced from Human Protein Atlas.