Rabbit anti-Human MLPH Polyclonal Antibody | anti-MLPH antibody

MLPH, CT (MLPH, SLAC2A, Melanophilin, Exophilin-3, Slp homolog lacking C2 domains a, Synaptotagmin-like protein 2a) (MaxLight 405)

Cat. Num. AAA6321201

• Gene Names: MLPH; SLAC2-A
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: MLPH; Polyclonal Antibody; CT (MLPH; SLAC2A; Melanophilin; Exophilin-3; Slp homolog lacking C2 domains a; Synaptotagmin-like protein 2a) (MaxLight 405); Synaptotagmin-like protein 2a; anti-MLPH antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight405.

• Applicable Applications for anti-MLPH antibody: Immunohistochemistry (IHC), FLISA, Western Blot (WB)
• Application Notes: IHC: 1:10-50; FLISA: 1:1,000; WB: 1:100-500; Applications are based on unconjugated antibody.
• Immunogen: MLPH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 540-569 amino acids from the C-terminal region of human MLPH.
• Conjugate: MaxLight405
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight405 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Related Product Information for anti-MLPH antibody

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 of this gene have been described, but the full-length nature of some of these variants has not been determined.

Product Categories/Family for anti-MLPH antibody

Antibodies; Syntaxin; Synaptotagmin; Synaptophysin

References

Park, J.W., et al. J. Med. Genet. 43(7):598-608(2006). Seabra, M.C., et al. Traffic 5(6):393-399(2004). Fukuda, M., et al. J. Cell. Sci. 117 (PT 4), 583-591 (2004): Lukusa, T., et al. Genet. Couns. 15(3):293-301(2004). Menasche, G., et al. J. Clin. Invest. 112(3):450-456(2003).

NCBI and Uniprot Product Information

• NCBI GI #: 13129108
• NCBI GeneID: 79083
• NCBI Accession #: NP_077006.1
• NCBI GenBank Nucleotide #: NM_024101.6
• UniProt Accession #: Q9BV36; Q9HA71; B3KSS2; B4DKW7; G5E9G5
• Molecular Weight: 50,735 Da
• NCBI Official Full Name: melanophilin isoform 1
• 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: melanocyte differentiation; melanosome localization; protein targeting

Disease: Griscelli Syndrome, Type 3