Recombinant Human ABCA4 Protein, GST-Tagged

• Cat.No.: ABCA4-033H
• Product Overview: Human ABCA4 partial ORF ( NP_000341, 2174 a.a. - 2273 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: 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, Jul 2008]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 36.74 kDa
• AA Sequence: PKDDLLPDLNPVEQFFQGNFPGSVQ RERHYNMLQFQVSSSSLARIFQLLL SHKDSLLIEEYSVTQTTLDQVFVNF AKQQTESHDLPLHPRAAGASRQAQD
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 [ Homo sapiens ]
• Official Symbol: ABCA4
• Synonyms: ABCA4; ATP-binding cassette, sub-family A (ABC1), member 4; ABCR, ATP binding cassette transporter, retinal specific , RP19, STGD, STGD1; retinal-specific ATP-binding cassette transporter; ARMD2; FFM; Stargardt disease; RIM protein; RIM ABC transporter; photoreceptor rim protein; stargardt disease protein; retina-specific ABC transporter; ATP binding cassette transporter; ATP-binding transporter, retina-specific; ATP-binding cassette sub-family A member 4; ATP-binding cassette transporter, retinal-specific; RMP; ABCR; RP19; STGD; ABC10; CORD3; STGD1; FLJ17534; DKFZp781N1972
• Gene ID: 24
• mRNA Refseq: NM_000350
• Protein Refseq: NP_000341
• MIM: 601691
• UniProt ID: P78363