Gene: RPL11

Alternate names for this Gene: DBA7|GIG34|L11|uL5

Gene Summary: 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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: ribosomal protein L11

Type of Gene: protein-coding

rs121434389 in RPL11 gene and Anemia, Diamond-Blackfan PMID 19061985 2008 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

PMID 19773262 2010 Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.