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ABCA subfamily C

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been mostly related with lipid trafficking in a wide range of body locations. Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment [1-2].

Transporters

759
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ABC1, CERP (ABCA1) C Show summary » More detailed page go icon to follow link

ABC2 (ABCA2) Show summary »

ABC3, ABCC (ABCA3) C Show summary »

ABCR (ABCA4) C Show summary »


Target Id 759
Systematic nomenclature ABCA4
Common abbreviation ABCR
Previous and unofficial names Retinal-specific ATP-binding cassette transporter | RIM ABC transporter | RmP | Stargardt disease protein | ABCR | ARMD2 | FFM | RP19 | STGD | ATP-binding cassette transporter, retinal-specific | ATP-binding cassette, sub-family A (ABC1), member 4 | Abc10 | Rim protein | STGD1 | ATP-binding cassette, subfamily A (ABC1), member 4 | ATP-binding cassette
Genes ABCA4 (Hs), Abca4 (Mm), Abca4 (Rn)
Ensembl ID ENSG00000198691 (Hs), ENSMUSG00000028125 (Mm), ENSRNOG00000012892 (Rn)
UniProtKB AC P78363 (Hs), O35600 (Mm)
Comment Retinal-specific transporter of N-retinylPE; loss-of-function mutations are associated with childhood-onset Stargardt disease, a juvenile onset macular degenerative disease. The earlier onset disease is often associated with the more severe and deleterious ABCA4 variants [6].

ABCA4 facilitates the clearance of all-trans-retinal from photoreceptor disc membranes following photoexcitation. ABCA4 can also transport N-11-cis-retinylidene-phosphatidylethanolamine, the Schiff-base adduct of 11-cis-retinal; loss of function mutation cause a buildup of lipofuscin, atrophy of the central retina, and severe progressive loss in vision [8].

ABCA5 C Show summary »

ABCA6 C Show summary »

ABCA7 C Show summary »

ABCA8 Show summary »

ABCA9 Show summary »

ABCA10 Show summary »

ABCA12 C Show summary » More detailed page go icon to follow link

ABCA13 Show summary »

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References

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NC-IUPHAR subcommittee and family contributors

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How to cite this family page

Database page citation (select format):

Concise Guide to PHARMACOLOGY citation:

Alexander SP, Kelly E, Mathie A, Peters JA, Veale EL et al. (2021) THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Transporters. Br J Pharmacol. 178 Suppl 1:S412-S513.