EFEMP1; DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; EGF-Containing Fibulin-Like Extracellular Matrix Protein 1; Fibrillin-Like; Extracellular protein S1-5
EGF-containing fibulin-like extracellular matrix protein 1
spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same extracellular matrix protein. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. The cDNA for this gene, designated 'fibrillin-like' (FBNL), was isolated from a fibroblast cDNA library. The FBNL cDNA probe detected 2 transcripts of 2.2 and 3.0 kb in mRNA from multiple tissues. The FBNL gene is expressed in many tissues but it is not expressed in brain and lymphocytes. the amino acid sequence of the FBNL gene is 36.3% identical to FBN1 and 35.4% identical to FBN2 and that FBNL contains repeated cbEGF-like domains, a cardinal motif of FBN genes.
Organism species: Homo sapiens (Human)
Organism species: Mus musculus (Mouse)
Organism species: Rattus norvegicus (Rat)