MLPH sirna

MLPH siRNA (Human)

Cat. Num. AAA8219238

• Gene Names: MLPH; SLAC2-A
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: MLPH; MLPH siRNA (Human); SLAC2A; Melanophilin; Exophilin-3; Slp homolog lacking C2 domains a; SlaC2-a; Synaptotagmin-like protein 2a; MLPH sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: MLPH siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 572

• Applicable Applications for MLPH sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human MLPH gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for MLPH sirna

siRNA to inhibit MLPH expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 109826351
• NCBI GeneID: 79083
• NCBI Accession #: NP_001035932.1
• NCBI GenBank Nucleotide #: NM_001042467.2
• UniProt Accession #: Q9BV36; Q9HA71; B3KSS2; B4DKW7; G5E9G5
• Molecular Weight: 50,735 Da
• NCBI Official Full Name: melanophilin isoform 2
• NCBI Official Synonym Full Names: melanophilin
• NCBI Official Symbol: MLPH
• NCBI Official Synonym Symbols: SLAC2-A
• NCBI Protein Information: melanophilin
• UniProt Protein Name: Melanophilin
• Protein Family: Melanophilin
• UniProt Gene Name: MLPH
• UniProt Synonym Gene Names: SLAC2A; SlaC2-a
• UniProt Entry Name: MELPH_HUMAN

NCBI Description

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Uniprot Description

MLPH: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3). GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: cortical actin cytoskeleton; perinuclear region of cytoplasm; dendrite; stress fiber; microtubule organizing center

Molecular Function: microtubule plus-end binding; metal ion binding; myosin V binding; actin binding; Rab GTPase binding

Biological Process: melanosome localization; melanocyte differentiation; protein targeting

Disease: Griscelli Syndrome, Type 3