ABCA4 Antilichaam

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.

24

P78363

Human, Mouse, Rat

Recombinant fusion protein containing a sequence corresponding to amino acids 110-300 of human ABCA4 (NP_000341.2) .

Unconjugated

Primary Antibodies

Neuroscience

Affinity purification

U-251MG

Batch dependent

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

None

Blue Ice

Store at -20˚ C. Avoid freeze / thaw cycles.

Observed: 256kDa

IgG

ABCA4

BT-474

293T

Mouse heart

Mouse lung

Rat eye

ATP-binding cassette, sub-family A (ABC1), member 4

Homo sapiens

ABCA4, ATP-binding cassette, sub-family A (ABC1), member 4, ABC10, ABCR, ARMD2, CORD3, DKFZp781N1972, FFM, RMP, RP19, STGD, STGD1, ATP binding cassette transporter, sub-family A member 4, ATP-binding transporter, retina-specific, ret

WB, IF

Liquid