60S ribosomal protein L38

60S ribosomal protein L38 is a is_associated_with::protein that in humans is encoded by the RPL38 is_associated_with::gene.

Gene
The human RPL38 gene resides on the long arm of is_associated_with::chromosome 17 at 17q25.1. It consists of five is_associated_with::exons spread out over a distance of 6223 bp. The 213 nucleotide open reading frame encodes a 70 amino acid is_associated_with::protein. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed is_associated_with::pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the is_associated_with::angiotensin II receptor type 1 gene.

Function
is_associated_with::Ribosomes, the organelles that catalyze protein synthesis, consist of a small is_associated_with::40S subunit and a large is_associated_with::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 L38E family of ribosomal proteins. It is located in the is_associated_with::cytoplasm.

Genetics
An ~18kbp deletion, encompassing the entire Rpl38 locus underlies the is_associated_with::phenotype in the Tail-short (Ts) mutant mouse. In is_associated_with::homozygous state, Ts mice die at around 3–4 days of is_associated_with::gestation. Ts/+ heterozygous embryos undergo an is_associated_with::anemia and develop skeletal malformations. During the perinatal period ~30% of the heterozygotes die. The surviving heterozygous Ts exhibit great variations of shortened, kinked and otherwise malformed tails. They also weigh less than their wild-type littermates but have otherwise a normal life span. Additionally, Ts mice develop a is_associated_with::conductive hearing loss shortly after the onset of hearing at around 3–4 weeks of age. The hearing loss is the result of ectopic is_associated_with::ossification along the round window ridge at the outside of the is_associated_with::cochlea, massive deposition of cholesterol crystals in the middle ear cavity, an enlarged is_associated_with::Eustachian tube and a chronic is_associated_with::otitis media with effusion.

In is_associated_with::Drosophila melanogaster, loss-of-function alleles of RPL38, cause embryonic lethality in homozygotes and protracted growth and shortened bristles in heterozygotes. Due to the haplo-insufficient nature of the mutation, the phenotype is inherited as a dominant trait.

In humans, mutations in ribosomal proteins cause is_associated_with::Diamond-Blackfan Anemia. However, no disease has yet been linked to mutations in human RPL38.