GeneID: 318

Description:
The RPS24 gene encodes a protein involved in ribosomal RNA biogenesis and is critical for maturation of the 40S ribosomal subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene have been found in patients with Diamond-Blackfan anaemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Genetic variance in RPS24 gene associated with episodes of pain in patients with sickle cell disease.

Synonyms: S24 , DBA3 , eS24

Comments:
N/A

Number of entries/variants: 1

1. Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE, Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder., Hum. Mol. Genet., 17(9), 1253-63, 2008 PubMed
2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed