Anti-MLPH Antibody (CAB6656)

Antibody Name:	Anti-MLPH Antibody
Antibody SKU:	CAB6656
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 301-600 of human MLPH (NP_077006.1).

Application:	WB IHC IF
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	Mouse stomach

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 301-600 of human MLPH (NP_077006.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	EQLP LQYL ADVD TSDE ESIR AHVM ASHH SKRR GRAS SESQ IFEL NKHI SAVE CLLT YLEN TVVP PLAK GLGA GVRT EADV EEEA LRRK LEEL TSNV SDQE TSSE EEEA KDEK AEPN RDKS VGPL PQAD PEVG TAAH QTNR QEKS PQDP GDPV QYNR TTDE ELSE LEDR VAVT ASEV QQAE SEVS DIES RIAA LRAA GLTV KPSG KPRR KSNL PIFL PRVA GKLG KRPE DPNA DPSS EAKA MAVP YLLR RKFS NSLK SQGK DDDS FDRK SVYR GSLT QRNP NARK GMAS HTFA KPVV AHQS
Gene ID:	79083
Uniprot:	Q9BV36
Cellular Location:	Cytoplasm
Calculated MW:	50kDa/52kDa/60kDa/62kDa/65kDa
Observed MW:	75kDa

Synonyms:

MLPH, SLAC2-A

Background:

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.

UniProt Protein Function:	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.
UniProt Protein Details:	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
NCBI Summary:	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 Code:	Q9BV36
NCBI GenInfo Identifier:	32129730
NCBI Gene ID:	79083
NCBI Accession:	Q9BV36.1
UniProt Secondary Accession:	Q9BV36,Q9HA71, B3KSS2, B4DKW7, G5E9G5,
UniProt Related Accession:	Q9BV36
Molecular Weight:	600
NCBI Full Name:	Melanophilin
NCBI Synonym Full Names:	melanophilin
NCBI Official Symbol:	MLPH
NCBI Official Synonym Symbols:	SLAC2-A
NCBI Protein Information:	melanophilin; exophilin-3; synaptotagmin-like protein 2a; slp homolog lacking C2 domains a
UniProt Protein Name:	Melanophilin
UniProt Synonym Protein Names:	Exophilin-3; Slp homolog lacking C2 domains a; SlaC2-a; Synaptotagmin-like protein 2a
Protein Family:	Melanophilin
UniProt Gene Name:	MLPH
UniProt Entry Name:	MELPH_HUMAN

	Western blot analysis of extracts of Mouse stomach, using MLPH antibody (CAB6656) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 180s.
	Immunofluorescence analysis of NIH-3T3 cells using MLPH antibody (CAB6656) at dilution of 1:100. Blue: DAPI for nuclear staining.
	Immunofluorescence analysis of U-2 OS cells using MLPH antibody (CAB6656) at dilution of 1:100. Blue: DAPI for nuclear staining.

Antibodies

MLPH Antibody (PACO10514)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)