功能： disease:Defects in RPL35A are the cause of Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528]. DBA5 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.,function:Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site.,miscellaneous:Knockdown of RPL35A in hematopoietic cell lines results in decreased cell proliferation, increased apoptosis, decreased biogenesis of mature 60S ribosomal subunit, and abnormal processing of large ribosomal subunit rRNA.,similarity:Belongs to the ribosomal protein L35Ae family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： mitochondrion,cytosol,ribosome,membrane,cytosolic large ribosomal subunit,extracellular matrix,extracellular exosome,
组织表达： Bone marrow,Colon,Ovary,Placenta,
科研货号： PLA006239
RL35A Polyclonal Antibody
Catalog NoPLA006239
Product information
基因名称： RPL35A GIG33
蛋白名称： 60S ribosomal protein L35a (Cell growth-inhibiting gene 33 protein)
功能： disease:Defects in RPL35A are the cause of Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528]. DBA5 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.,function:Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site.,miscellaneous:Knockdown of RPL35A in hematopoietic cell lines results in decreased cell proliferation, increased apoptosis, decreased biogenesis of mature 60S ribosomal subunit, and abnormal processing of large ribosomal subunit rRNA.,similarity:Belongs to the ribosomal protein L35Ae family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： mitochondrion,cytosol,ribosome,membrane,cytosolic large ribosomal subunit,extracellular matrix,extracellular exosome,
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