|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for RAB7A(NM_004637.5) Search again
Product ID:
HQP018819
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CMT2B, PRO2706, RAB7
Gene Description:
RAB7A, member RAS oncogene family
Target Gene Accession:
NM_004637.5(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:
|
|
| A | B |
|
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. |
|
Summary
RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq].
Gene References into function
- an endocytotic catalyst, a tandem regulator of thyroid hormone production
- may be involved in the process of atherogenesis
- Mutations in this protein cause Charcot-Marie-Tooth type 2B neuropathy.
- Not a new major locus for Japanese oculocutaneous albinisms.
- increase in the concentration of copper in the medium (189 microM) rapidly induces a redistribution of the MNK protein from early sorting endosomes, positive for Rab5-myc protein, to late endosomes, containing the Rab7-myc protein
- All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, distal muscle wasting and impaired deep tendon reflexes were found.and linkage to chromosome 19q13.3.
- Rab7 interacts with the Rab binding platform of REP-1 via an extended interface involving the Switch 1 and 2 regions.
- Results show a role for Rab7 in the final maturation of late autophagic vacuoles.
- This study report a family with autosomal dominant ulcero-mutilating neuropathy and Sequencing the RAB7 gene showed a novel heterozygous A to C mutation, changing asparagine to threonine at codon 161.
- ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes
- The crystal structure of Rab7-GTP in complex with the Rab7 binding domain of RILP reveals that Rab7 interacts with RILP specifically via two distinct areas.
- The data together indicate that RILP, as already demonstrated for several other Rab effector proteins, is capable of self-association, thus probably forming a homo-dimer.
- ORP1L binds to Rab7, modifies its functional cycle, and can interfere with lysosome organization and endocytic membrane trafficking.
- rab7 regulates the endocytic trafficking of the EGF.EGFR complex by regulating its lysosomal degradation
- Hence, RILPsv provides an extra dimension to the control of vesicle fusion and transport by the small GTPase Rab7.
- Rab7 controls microtubule-mediated transport of early and Rab27a the subsequent actin-dependent transport of mature melanosomes.
- GTP-bound form of Rab7 promotes melanogenesis through the regulation of gp100 maturation in melanoma cells.
- RIDalpha coordinates recruitment of these GTP-Rab7 effectors to compartments that would ordinarily be perceived as early endosomes, thereby promoting the degradation of selected cargo.
- All tested CMT2B-associated Rab7 mutations are mechanistically similar, suggesting that activated forms of the Rab7 are responsible for CMT2B disease.
- The biochemical and functional properties of the Rab7 K157N mutated protein were investigated.
- cholesterol accumulation can have a detrimental effect on phagosome maturation by impairing the activation of Rab7
- Data suggest that translocation of ATP7B takes place independently of Rab7-regulated endosomal traffic, and that Murr1 plays a role in a later step of the copper excretion pathway but is not involved in the translocation of the Wilson disease protein.