RPL15 gene

ribosomal protein L15

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]

From NCBI Gene:

  • Diamond-Blackfan anemia 12

From UniProt:

Diamond-Blackfan anemia 12 (DBA12): 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. [MIM:615550]

Cytogenetic Location: 3p24.2, which is the short (p) arm of chromosome 3 at position 24.2

Molecular Location: base pairs 23,916,804 to 23,923,696 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p24.2, which is the short (p) arm of chromosome 3 at position 24.2
  • DBA12
  • EC45
  • L15
  • RPL10
  • RPLY10
  • RPYL10