Abca4 (GeneName), Retinal-specific phospholipid-transporting ATPase ABCA4 (ProteinName), ABCA4_MOUSE.
Product Name:
Mouse Abca4/ Retinal-specific phospholipid-transporting ATPase ABCA4 ELISA Kit
Cat.#:
E10399m
Brand:
EIAab®
Regulatory Status:
Alternative:
ATP-binding cassette sub-family A member 4, RIM ABC transporter, RIM protein, Abcr, Retinal-specific ATP-binding cassette transporter
Detection Method:
ELISA
Assay Type:
Sandwich
Detection Range:
0.156-10ng/mL
Sensitivity:
0.078ng/mL
Specificity:
Natural and recombinant mouse Retinal-specific phospholipid-transporting ATPase ABCA4
Sample Type:
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
Sample Data:
Assay Procedure:
Research Area:
-
- Data
- Citations
- Publication
- Sequence / 3D
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General Annotation
Sub Unit:
N/A
Function:
Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylethanolamine. In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.
Subcellular Location:
Membrane
Multi-pass membrane protein
Endoplasmic reticulum
Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.
Database link
Valid Sequence:
This product has not yet been referenced specifically in any publications.
[1].
"Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."
[2].
"Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
[3].
"Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration."
[5].
"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."
[6].
"Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis."
[7].
"ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies."
[8].
"N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population."
[9].
"Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients."
[10].
"Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa."
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