ABCA4 (Human) Recombinant Protein (Q01)
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More Files
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Specification
Product Description
Human ABCA4 partial ORF ( NP_000341, 2174 a.a. - 2273 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
PKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
36.74
Interspecies Antigen Sequence
Mouse (92); Rat (92)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
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Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
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Gene Info — ABCA4
Entrez GeneID
24GeneBank Accession#
NM_000350Protein Accession#
NP_000341Gene Name
ABCA4
Gene Alias
ABC10, ABCR, ARMD2, CORD3, DKFZp781N1972, FFM, FLJ17534, RMP, RP19, STGD, STGD1
Gene Description
ATP-binding cassette, sub-family A (ABC1), member 4
Gene Ontology
HyperlinkGene Summary
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. [provided by RefSeq
Other Designations
ATP binding cassette transporter|ATP-binding cassette, sub-family A member 4|ATP-binding transporter, retina-specific|OTTHUMP00000012366|photoreceptor rim protein|retina-specific ABC transporter
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Interactome
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Pathway
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Disease
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