其他名称： PROM1; Prominin-1; Antigen AC133; Prominin-like protein 1; CD133
实测条带： 100kD
功能： disease:Defects in PROM1 are the cause of cone-rod dystrophy type 12 (CORD12) [MIM:612657]. CORD12 is an inherited retinal dystrophy 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 PROM1 are the cause of retinal macular dystrophy type 2 (MCDR2) [MIM:608051]. MCDR2 is a bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.,disease:Defects in PROM1 are the cause of retinitis pigmentosa type 41 (RP41) [MIM:612095]; also known as retinal degeneration autosomal recessive prominin-related. RP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.,disease:Defects in PROM1 are the cause of Stargardt disease type 4 (STGD4) [MIM:603786]. Stargardt disease is the most common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.,online information:Retina International's Scientific Newsletter,PTM:Glycosylated.,similarity:Belongs to the prominin family.,subunit:Interacts with PCDH21 and with actin filaments.,tissue specificity:Selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Not detected on other blood cells. Also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Multi-pass membrane protein . Cell projection, microvillus membrane ; Multi-pass membrane protein . Cell projection, cilium, photoreceptor outer segment . Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.
组织表达： Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).
其他名称： PROM1; Prominin-1; Antigen AC133; Prominin-like protein 1; CD133
实测条带： 100kD
功能： disease:Defects in PROM1 are the cause of cone-rod dystrophy type 12 (CORD12) [MIM:612657]. CORD12 is an inherited retinal dystrophy 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 PROM1 are the cause of retinal macular dystrophy type 2 (MCDR2) [MIM:608051]. MCDR2 is a bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.,disease:Defects in PROM1 are the cause of retinitis pigmentosa type 41 (RP41) [MIM:612095]; also known as retinal degeneration autosomal recessive prominin-related. RP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.,disease:Defects in PROM1 are the cause of Stargardt disease type 4 (STGD4) [MIM:603786]. Stargardt disease is the most common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.,online information:Retina International's Scientific Newsletter,PTM:Glycosylated.,similarity:Belongs to the prominin family.,subunit:Interacts with PCDH21 and with actin filaments.,tissue specificity:Selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Not detected on other blood cells. Also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Multi-pass membrane protein . Cell projection, microvillus membrane ; Multi-pass membrane protein . Cell projection, cilium, photoreceptor outer segment . Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.
组织表达： Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).
在线咨询
湘公网安备