Description
Antibody Name: | AP4M1 Antibody (PACO07773) |
Antibody SKU: | PACO07773 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human AP4M1 |
Form: | Liquid |
Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity Purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | adaptor-related protein complex 4, mu 1 subunit;AP4M1;MU-4;MU-ARP2 ; |
UniProt Protein Function: | AP4M1: Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. Defects in AP4M1 are the cause of cerebral palsy spastic quadriplegic type 3 (CPSQ3). A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. Belongs to the adaptor complexes medium subunit family.Protein type: Adaptor/scaffoldChromosomal Location of Human Ortholog: 7q22.1Cellular Component: AP-type membrane coat adaptor complex; Golgi trans cisterna; trans-Golgi network; trans-Golgi network membraneMolecular Function: protein binding; transporter activityBiological Process: Golgi to endosome transport; intracellular protein transport; vesicle-mediated transportDisease: Spastic Paraplegia 50, Autosomal Recessive |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] |
UniProt Code: | O00189 |
NCBI GenInfo Identifier: | 145559442 |
NCBI Gene ID: | 9179 |
NCBI Accession: | O00189.2 |
UniProt Secondary Accession: | O00189,Q8WV65, Q9UHK9, D6W5U1 |
UniProt Related Accession: | O00189 |
Molecular Weight: | 49,977 Da |
NCBI Full Name: | AP-4 complex subunit mu-1 |
NCBI Synonym Full Names: | adaptor related protein complex 4 mu 1 subunit |
NCBI Official Symbol: | AP4M1 |
NCBI Official Synonym Symbols: | MU-4; CPSQ3; SPG50; MU-ARP2 |
NCBI Protein Information: | AP-4 complex subunit mu-1 |
UniProt Protein Name: | AP-4 complex subunit mu-1 |
UniProt Synonym Protein Names: | AP-4 adaptor complex mu subunit; Adaptor-related protein complex 4 subunit mu-1; Mu subunit of AP-4; Mu-adaptin-related protein 2; mu-ARP2; Mu4-adaptin; mu4 |
Protein Family: | AP-4 complex |
UniProt Gene Name: | AP4M1 |
UniProt Entry Name: | AP4M1_HUMAN |