RTL1
Description
The RTL1 (retrotransposon Gag like 1) is a protein-coding gene located on chromosome 14.
RTL1 (retrotransposon like 1) is a retrotransposon-derived protein coding gene. Also known as PEG11, it is a paternally expressed imprinted gene. RTL1 plays a vital role in maintaining fetal capillaries and is highly expressed during the late stages of fetal development. Its expression is crucial for the development of the placenta, the interface between the fetus and mother. The placenta, the first organ to form during embryonic development, is sensitive to disruptions due to its essential role in sustaining the fetus throughout pregnancy. Studies in mice suggest that disruptions in RTL1 concentration, whether an increase or decrease, can lead to severe errors in placental fetal capillary maintenance. RTL1 knockout mice have exhibited obstructed fetal development and late fetal/neonatal death. Sheep homolog studies suggest high RTL1 expression levels can lead to skeletal muscle hypertrophy due to overexpression patterns in the paternally specific gene.
RTL1 is also known as HUR1, MART1, Mar1, PEG11, SIRH2.
Associated Diseases
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Temple syndrome due to paternal 14q32.2 microdeletion
- Temple syndrome due to paternal 14q32.2 hypomethylation
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- Temple syndrome due to maternal uniparental disomy of chromosome 14
