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Validated All-in-One™ qPCR Primer for SLC40A1(NM_014585.5) Search again
Product ID:
HQP008694
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
FPN, FPN1, HFE4, IREG1, MST079, MSTP079, MTP1, SLC11A3
Gene Description:
solute carrier family 40 member 1
Target Gene Accession:
NM_014585.5(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:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq].
Gene References into function
- Hemochromatosis is caused by mutations in the iron-regulatory protein ferroportin.
- gene coding and flanking regions were sequenced and examined for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype or cause hemochromatosis independent of mutations in the HFE gene
- expression levels of human DCT1 mRNA, and to a lesser extent IREG1 mRNA, are regulated in an iron-dependent manner
- A 3-base pair deletion in exon 5 of the ferroportin 1 gene predicting Val162 deletion was found in a family with autosomal dominant inheritance of increased body iron stores without hemochromatosis.
- Iron increases expression of this iron-export protein in lung cells.
- both L ferritin IRE and ferroportin mutations can account for isolated hyperferritinemia.
- Q248H mutation is a common polymorphism in the ferroportin 1 gene in African populations that may be associated with mild anemia and a tendency to iron loading
- variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload
- review of a new inherited disorder of iron metabolism due to pathogenic mutations in the SLC40A1 gene
- the presence of cirrhosis is an independent factor associated with increased expression of DMT1 but not Ireg1.
- Neither HFE (C282Y and H63D) nor ferroportin(Val162del) mutations were determinants of total body iron status, as assessed by ferritin levels, in thalassemia intermedia and betas/betathal patients
- In Africans with iron overload not related to the HFE gene, the possible involvement of the SLC40A1 and CYBRD1 genes was demonstrated for the first time.
- ferroportin mutations A77D, V162delta, and G490D are associated with a typical pattern of hemochromatosis disease in vivo
- Hereditary hemochromatosis associated with a previously unrecognized ferroportin mutation (Cys326Ser).
- the Y64N and C326Y mutants of FPN are completely resistant to hepcidin inhibition and N144D and N144H are partially resistant. Hemochromatosis-associated FPN mutations, either reduce iron export or produce an FPN variant that is insensitive to hepcidin
- Mutation in the ferroportin 1 may be related to hemochromatosis.
- HFE4 mutations are heterogeneous in their effects on protein function; all mutants appear to be unresponsive to hepcidin and do not demonstrate the expected internalization on exposure to hepcidin.
- ferroportin mutations A77D, V162delta, and G490D are associated with a typical pattern of hemochromatosis disease in vivo
- The behavior of mutant ferroportin in cell culture and the ability of mutant Fpn to act as a dominant negative explain the dominant inheritance of hemochromaatois as well as the different patient phenotypes.
- FPN1 is present in erythroid cells at all stages of differentiation. The existence of multiple FPN1 transcripts indicates a complex regulation of the FPN1 gene in erythroid cells.
- Iron mobilization by alveolar macrophages can be affected by iron and LPS via several pathways, including HAMP-mediated degradation of FPN1, and that these cells may use unique regulatory mechanisms to cope with iron imbalance in the lung.
- Fpn amino acid substitution represents a class of Fpn mutants whose behavior in vitro does not explain the phenotype of patients with iron overload.
- findings conclude that the frequency of the FPN1 Q248H polymorphism is greater in African American men with elevated serum ferritin than in those with normal serum ferritin
- the S338R mutation results in a mutated ferroportin associated with iron overload and is predicted insensitive to regulation by the iron regulatory hormone hepcidin
- After binding of hepcidin, Fpn is tyrosine phosphorylated at the plasma membrane.
- Results suggest the possibility that FPN-1 might associate and interact with Heph in the process of iron exit across the basolateral membrane of intestinal absorptive cell.
- frequency of SLC40A1 Q248H is significantly lower in African-Americans than Native Africans; OR estimates of iron overload in African-Americans & Native Africans with Q248H were greater than unity, increased OR were not statistically significant
- analysis of the SLC40A1 gene at the mRNA level in 2 patients with hyperferritinemia, normal transferrin saturation & iron accumulation predominantly in macrophages & Kupffer cells; first displayed V162 Delta; the second a novel mutation (R178G)
- ferroportin was investigated as a candidate gene in 2 pedigrees with hyperferritinaemia and siderosis in mononuclear phagocytes; A77D mutation was detected in patient 1, his father & brother; V162del mutation was detected in patient 4
- A new SLC40A1 exon 7 mutation c.1402G-->A results in aberrant splicing to a cryptic upstream splice site at nt 990 in the same exon. The truncated protein, missing its C-terminal 241 AAs, lacks all structural motifs beyond transmembrane region 7.
- We identified two novel mutations (D157N and V72F) at the heterozygous state of SLC40A1 in two probands. Phenotype heterogeneity was observed in both families, suggesting variable penetrance and expression
- No significant change in placental expression of either protein or mRNA ferroportin 1 (FP1) was observed in the maternal anemia groups
- We identify the hepcidin-binding domain (HBD) on ferroportin and show that a synthetic 19 amino acid peptide corresponding to the HBD recapitulates the characteristics and specificity of hepcidin binding to cell-surface ferroportin.
- Ther is a higher prevalence of ferroportin Q248H with greater alcohol consumption, and this higher prevalence raises the possibility that the allele might ameliorate the toxicity of alcohol.
- Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
- Hepcidin addition resulted in a redistribution of ferroportin to intracellular compartments that labeled with early endosomal and lysosomal, but not Golgi, markers and that trafficked along microtubules.
- These results show that cooperativity between the ferroportin monomers is required for hepcidin-mediated Jak2 activation and ferroportin down-regulation.