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Validated All-in-One™ qPCR Primer for GSDME(NM_001127453.1) Search again
Product ID:
HQP058028
(click here to view gene annotation page)
Species:
Human
Symbol:
Alias:
DFNA5, ICERE-1
Gene Description:
gasdermin E
Target Gene Accession:
NM_001127453.1(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.
Validated result:
Summary
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.
Gene References into function
- no significant linkage between age-related hearing impairment (ARHI) and microsatellite markers from the DFNA5 region; there exists no strong association between DFNA5 and ARHI
- Here, we report another mutation in DFNA5, a CTT deletion in the polypyrimidine tract of intron 7.
- A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined.
- These results suggest that DFNA5 plays a role in the p53-regulated cellular response to genotoxic stress probably by cooperating with p53.
- description of a DFNA5 mutation: the insertion of a cytosine at nucleotide position 640 (AF073308.1:_c.640insC, AAC69324.1:_p. Thr215HisfsX8) which does not lead to hearing impairment
- GCs induce dfna5 mRNA and its expression appears to be repressed in the basal state. Induction of dfna5 mRNA correlates with GC-dependent apoptosis of CEM cells, though dfna5 expression alone is not sufficient for apoptosis.
- DFNA5-associated hearing loss is caused by a very specific gain-of-function mutation.
- DFNA5 is a novel tumor suppressor gene in CRC and a valuable molecular marker for human cancer
- These data implicate DFNA5 promoter methylation as a novel molecular biomarker in human breast cancer.
