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Validated All-in-One™ qPCR Primer for RAB27A(NM_004580.4) Search again
Product ID:
HQP016057
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
GS2, HsT18676, RAB27, RAM
Gene Description:
RAB27A, member RAS oncogene family
Target Gene Accession:
NM_004580.4(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 belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq].
Gene References into function
- role in melanosome transport
- Griscelli syndrome with neurological involvement is caused by mutations in RAB27A
- Rab27b is functionally redundant with Rab27a and the pathogenesis of Griscelli syndrome is determined by the relative expression of Rab27a and Rab27b in specialized cell types.
- RAB27A mutations in Griscelli disease
- recognition of the GTP-bound form of Rab27A requires the SHD1 of Slac2-a/melanophilin
- Rab27a mutations occurring in Griscelli syndrome patients reveal structure-activity relationships affecting GTP & GDP binding, melanophilin binding, melanosome distribution, and cytotoxic granule exocytosis.
- characterization of molecular defects in patients with Griscelli syndrome
- Rab27 regulates the dense core granule secretion in platelets by employing its binding protein, Munc13-4
- JFC1 differentially regulates the secretion of PSAP and PSA, and Rab27a and PI3K play a central role in the exocytosis of prostate-specific markers.
- Extensive genetic and allelic heterogeneity in Familial hemophagocytic lymphohistiocytosis (FHL) and delineate an approach for functionally characterizing missense mutations in RAB27A and UNC13D.
- These observations decisively prove that Rab27a inhibits ENaC function through a complex mechanism that involves GTP/GDP status, and protein-protein interactions involving Munc13-4 and SLP-5 effector proteins.
- findings show that Rab27a is involved in CFTR channel regulation through protein-protein interactions involving Munc13-4 and SLP-5 effector proteins
- Rab27 is maintained in the active status in unstimulated platelets, which could function to keep dense granules in a preparative status for secretion
- EPI64 is a GTPase-activating protein specific for Rab27A
- Rab7 controls microtubule-mediated transport of early and Rab27a the subsequent actin-dependent transport of mature melanosomes.
- Rab27a and JFC1/Slp1 permit myeloperoxidase release into the surrounding milieu and constitute key components of the secretory machinery of azurophilic granules in granulocytes
- A novel homozygous mutation in the RAB27A gene of a new Griscelli syndrome patient.
- The present results provide evidence from live retinal pigment epithelium cells that the RAB27A-MYRIP-MYO7A complex functions in melanosome motility.
- These results show that RAB27A is a new direct transcriptional target of MITF and link MITF to melanosome transport, another key parameter of melanocyte differentiation and skin pigmentation.
- The genes PRF1, GZMB, UNC13D, and Rab27a involved in hemophagocytic lymphohistiocytosis do not confer a significant risk of association with systemic-onset juvenile idiopathic arthritis.
- Rab27A is associated with invasive and metastatic potentials of human breast cancer cells.
- We present four novel mutations including a deletion hot spot in RAB27A gene in Griscelli syndrome type 2
- Study reports a novel homozygous missense mutation of the RAB27A gene of an Afghani GSII patient; G43S mutation located in the highly conserved switch I region of Rab27A induces perinuclear localization of melanosomes in normal melanocytes.
- Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation, this is the first case of Griscelli syndrome to be reported from Jordan.
- Rab3GEP has a role as the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes
- Rab27A mRNA and protein are expressed in human eosinophils.
- Rab27a is a major component of the exocytic machinery of human neutrophils, modulating the secretion of tertiary and specific granules that are readily mobilized upon neutrophil activation.
- Rab27a recruits Slp2a-hem on vesicular structures in peripheral CTLs and following CTL-target cell conjugate formation, the Slp2a-hem/Rab27a complex colocalizes with perforin-containing granules at the immunologic synapse
- Rab27A/Slp2a expression in limb girdle muscular dystrophy 2B muscle provides a compensatory vesicular trafficking pathway that is able to repair membrane damage in the absence of dysferlin.