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Validated All-in-One™ qPCR Primer for EFEMP1(NM_001039349.3) Search again
Product ID:
HQP153654
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5
Gene Description:
EGF containing fibulin extracellular matrix protein 1
Target Gene Accession:
NM_001039349.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene 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. [provided by RefSeq].
Gene References into function
- EFEMP1 has a role in retinal drusen formation and is involved in the etiology of macular degeneration and Malattia Leventinese.
- The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen, nor does it appear to play a role in familial age-related macular degeneration.
- The 5' end of the FBLN3 gene has been characterized, and the important upstream motifs regulating its transcription have been identified.
- TIMP-3 is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1)
- The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
- EFEMP1 is silenced by promoter hypermethylation in lung cancer
- Expression and cell compartmentalization of EFEMP1, a protein associated with Malattia Leventienese, is reported.
- the transcripts upregulated according to disease progression were associated with signaling pathway/transcription, including tumor-associated calcium signal transducer 1 and chemokine ligand 19, and with cell communication, such as collagen.
- a possible predictive impact of EFEMP1 expression in primary breast cancer
- Up-Regulation of EFEMP1 is associated with pancreatic adenocarcinoma.