RPL18 gene

ribosomal protein L18

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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

From UniProt:

Component of the large ribosomal subunit.

From NCBI Gene:

  • Diamond-Blackfan anemia 18

From UniProt:

Diamond-Blackfan anemia 18 (DBA18): 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. DBA18 inheritance is autosomal dominant. [MIM:618310]

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33

Molecular Location: base pairs 48,615,331 to 48,619,178 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33
  • DBA18
  • L18