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Validated All-in-One™ qPCR Primer for FOXC2(NM_005251.2) Search again
Product ID:
HQP005695
(click here to view gene annotation page)
Species:
Human
Symbol:
Alias:
FKHL14, LD, MFH-1, MFH1
Gene Description:
forkhead box C2
Target Gene Accession:
NM_005251.2(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
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq].
Gene References into function
- FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations.
- Analysis of phenotypic abnormalities in lymphedema-distichiasis syndrome patients with causative FOXC2 mutations suggests a possible developmental role for FOXC2 in both venous and lymphatic systems.
- Sequencing of the coding region of the only translated exon of the FOXC2 gene revealed a C to A transversion at position 939 resulting in a Tyr313Stop codon with premature termination of translation and a truncated protein product.
- Mutation screening of the FOXC2 gene identified a common polymorphism in the 5' untranslated region (C-512T). The T allele was associated with enhanced insulin sensitivity.
- An out-of-frame deletion (914-921del) was identified and found to segregate with distichiasis-lymphedema syndrome, further highlighting the phenotypic heterogeneity of lymphedema conditions linked to FOXC2 truncating mutations
- absence of evidence for the association of three frequent single nucleotide polymorphisms and four common haplotypes with Japanese type 2 diabetes
- Genetic variations of this protein occur in Pima Indians.
- FOXC2 -512C>T variant is not associated with Type 2 diabetes.
- adipose FOXC2 is more highly expressed in insulin-resistant subjects, and this effect is independent of obesity
- data suggest that transcription factor FOXC2 is a weak but consistent candidate gene for obesity and dyslipidemia
- These findings demonstrate an important role of adipocyte-expressed FOXC2 on whole-body glucose metabolism.
- FOXC2 missense mutations identified as functional nulls in patients with hereditary lymphedema with distichiasis.
- Foxc2 is a key molecule to regulate PAI-1 gene expression.
- Results suggest that FOXC2 is a susceptibility locus for reduced BMD in Japanese men and women.
- these data implicate specific members of the FOX family of TFs (FOXC1, C2, P1, P4, and O1A) not previously suggested in heart failure pathogenesis.
- Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein. FOXC2 appears to be important for the normal development and maintenance of venous and lymphatic valves.
- FOXC2 plays a key role in metastasis and is associated with aggressive basal-like breast tumors.
- confirmation that of the primary lymphoedemas, only lymphoedema with distichiasis is caused by FOXC2 mutations [Fox2C]
- family with classical lymphedema-distichiasis syndrome caused by a duplication in the FOXC2-gene
- lymphedema-distichiasis disorder is linked to a novel missense mutation in a patient
