ABCA4 peptide (ab87350)
- ABC 10ABC A4ABC10
- ABCA 4abcA4ABCA4_HUMANABCRARMD 2ARMD2ATP binding cassette 10ATP binding cassette sub family A member 4ATP binding cassette sub family A member4ATP binding cassette transporterATP binding cassette transporter retinal specificATP binding cassette, sub family A (ABC1), member 4ATP binding cassette, sub family A (ABC1), member4ATP binding cassette10ATP binding transporter, retina specificATP-binding cassette sub-family A member 4CORD 3CORD3DKFZp781N1972FFMFLJ17534Photoreceptor rim proteinRetina specific ABC transporterRetinal specific ATP binding cassette transporterRetinal-specific ATP-binding cassette transporterRIM ABC transporterRIM proteinRmPRP 19RP19Stargardt disease proteinSTGDSTGD1
Defects in ABCA4 are the cause of fundus flavimaculatus (FFM) [MIM:248200]. FFM is an autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.
Defects in ABCA4 may be a cause of age-related macular degeneration type 2 (ARMD2) [MIM:153800]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Defects in ABCA4 are the cause of cone-rod dystrophy type 3 (CORD3) [MIM:604116]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
Defects in ABCA4 are the cause of retinitis pigmentosa type 19 (RP19) [MIM:601718]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. Inheritance is autosomal recessive.
Contains 2 ABC transporter domains.
References for ABCA4 peptide (ab87350)
ab87350 has not yet been referenced specifically in any publications.