功能： disease: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.,disease: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.,disease: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.,disease:Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive.,disease: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.,function:May play a role in photoresponse. Retinoids, and most likely retinal, are the natural substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or possibly reorient all-trans-retinal in the bilayer.,online information:Retina International's Scientific Newsletter,polymorphism:The variant Ala-863 is present in the general population at a frequency of approximately 3% and 1% in Northern Europe and United States, respectively. It is a mild alteration probably leading to STGD phenotype only in combination with a more severe allele. The variant Glu-1961 is found with high frequency in healthy individuals of Somali ancestry.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane ; Multi-pass membrane protein . Endoplasmic reticulum . Cytoplasmic vesicle . Cell projection, cilium, photoreceptor outer segment . Localized to the rim and incisures of rod outer segments disks. .
组织表达： Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
科研货号： PLA007062
ABCA4 Polyclonal Antibody
Catalog NoPLA007062
Product information
基因名称： ABCA4 ABCR
蛋白名称： Retinal-specific ATP-binding cassette transporter (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM protein) (RmP) (Stargardt disease protein)
功能： disease: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.,disease: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.,disease: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.,disease:Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive.,disease: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.,function:May play a role in photoresponse. Retinoids, and most likely retinal, are the natural substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or possibly reorient all-trans-retinal in the bilayer.,online information:Retina International's Scientific Newsletter,polymorphism:The variant Ala-863 is present in the general population at a frequency of approximately 3% and 1% in Northern Europe and United States, respectively. It is a mild alteration probably leading to STGD phenotype only in combination with a more severe allele. The variant Glu-1961 is found with high frequency in healthy individuals of Somali ancestry.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane ; Multi-pass membrane protein . Endoplasmic reticulum . Cytoplasmic vesicle . Cell projection, cilium, photoreceptor outer segment . Localized to the rim and incisures of rod outer segments disks. .
组织表达： Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
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