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

MLPH  Polyclonal Antibody

Cat. Num. AAA2537342

• Gene Names: MLPH; SLAC2-A
• Reactivity: Human
• Applications: Western Blot, Immunohistochemistry
• Purity: Affinity Purification
• Synonyms: MLPH ; Polyclonal Antibody; MLPH Polyclonal Antibody; SLAC2-A; anti-MLPH antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Affinity Purification

• Applicable Applications for anti-MLPH antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: WB: 1:500-1:2000, IHC: 1:50-1:200
• Immunogen: Recombinant protein of human MLPH
• Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3
• Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-27774 / sc-33799 / sc-33800
• Preparation and Storage: Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Western Blot (WB)

(Western blot analysis of extracts of various cell lines, using MLPH antibody.)

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 encoding different isoforms have been found for this gene.

NCBI and Uniprot Product Information

• NCBI GI #: 527317396
• NCBI GeneID: 79083
• NCBI Accession #: NP_001268403.1
• NCBI GenBank Nucleotide #: NM_001281474.1
• Molecular Weight: Calculated MW: 65kDa
• NCBI Official Full Name: melanophilin isoform 4
• NCBI Official Synonym Full Names: melanophilin
• NCBI Official Symbol: MLPH
• NCBI Official Synonym Symbols: SLAC2-A
• NCBI Protein Information: melanophilin
• UniProt Protein Name: 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: dendrite; perinuclear region of cytoplasm

Molecular Function: metal ion binding; protein binding; Rab GTPase binding

Biological Process: intracellular protein transport

Disease: Griscelli Syndrome, Type 3