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; dendrite; perinuclear region of cytoplasm
Molecular Function: actin binding; myosin binding; protein binding; Rab GTPase binding
Biological Process: vesicle transport along actin filament
Disease: Griscelli Syndrome, Type 3
Product Notes
The MLPH mlph (Catalog #
AAA7048671) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The MLPH Antibody, Biotin conjugated reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's MLPH can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA). Researchers should empirically determine the suitability of the MLPH mlph for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"MLPH, Polyclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are
absolutely not suitable for use in any
sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a
product from AAA Biotech, you
are explicitly certifying that said products will be properly tested and used in line with
industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech
cannot be held
responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any
aspect of this datasheet at
any time and without notice. It is the responsibility of the customer to inform AAA Biotech
of any product performance
issues observed or experienced within 30 days of receipt of said product. To see additional
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