MLPH Antibody, FITC conjugated (PACO49776)
- SKU:
- PACO49776
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- FITC
Frequently bought together:
Description
抗体名: | MLPH Antibody, FITC conjugated (PACO49776) |
抗体コード: | PACO49776 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human Melanophilin protein (310-539AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | FITC |
バックグラウンド: | Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. |
シノニム: | Melanophilin (Exophilin-3) (Slp homolog lacking C2 domains a) (SlaC2-a) (Synaptotagmin-like protein 2a), MLPH, SLAC2A |
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 |