RBCC Red Blood Cell Collection

RS24_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RPS24
Protein names and data: RS24_HUMAN , 40S ribosomal protein S24 Lenght: 133 a.a.
Mass: 15423 Da
fasta formatted sequence
Function: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits.
Disease: ( OMIM: 602412 610629 ) Diamond-Blackfan anemia 3 (DBA3) [MIM:610629]: 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 developing leukemia. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandular organs, contain significantly higher levels.

Database cross-references

UniProt: P62847
Ensembl: ENST00000360830
Ensembl: ENST00000372360
Ensembl: ENST00000440692
MIM: 602412
MIM: 610629
neXtProt: NX_P62847
Antibodypedia: P62847 (may not find the protein thus also not any antibody)
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