ABCA4 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 50-200 Positive control: Human cervical cancer Predicted cell location: Membrane, Cytoplasm
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide corresponding to a region derived from 2260-2273 amino acids of human ATP-binding cassette, sub-family A (ABC1), member 4
Formulation	PBS pH7.3, 0.05% NaN3, 50% glycerol
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Gene Name	ATP binding cassette subfamily A member 4
Database Link	NP_000341 Entrez Gene 24 Human UniProt ID P78363
Background	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1; MDR/TAP; MRP; ALD; OABP; GCN20; White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells; indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease; a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19; cone-rod dystrophy type 3; early-onset severe retinal dystrophy; fundus flavimaculatus; and macular degeneration age-related 2.
Synonyms	ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19; STGD; STGD1
Reference Data
Protein Families	Druggable Genome, Transmembrane
Protein Pathways	ABC transporters

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