“Molecular Genetics” Science-Research, March 2022, Week 2 — summary from MedlinePlus Genetics and NCBI Conserved Domains
MedlinePlus Genetics — summary generated by Brevi Assistant
Dentatorubral-pallidoluysian degeneration, typically called DRPLA, is a progressive brain condition that triggers uncontrolled activities, mental and psychological troubles, and a decrease in thinking capability. The indicators and signs of DRPLA vary rather between affected youngsters and grownups. Familial hypertrophic cardiomyopathy is a heart disease defined by thickening of the heart muscular tissue. People with domestic hypertrophic cardiomyopathy have a boosted threat of untimely end, also if they have no various other symptoms of the condition. Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. In people with Meesmann corneal dystrophy, cysts can look like very early as the first year of life. Pachyonychia congenita is a problem that largely affects the skin and nails. Some children with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Pseudoxanthoma elasticum is a progressive problem that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers. Mineralization of the blood vessels that bring blood from the heart to the rest of the body may cause various other symptoms and signs of PXE.
- https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy — Dentatorubral-pallidoluysian atrophy.
- https://medlineplus.gov/genetics/condition/familial-hypertrophic-cardiomyopathy — Familial hypertrophic cardiomyopathy.
- https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy — Meesmann corneal dystrophy.
- https://medlineplus.gov/genetics/condition/pachyonychia-congenita — Pachyonychia congenita.
- https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum — Pseudoxanthoma elasticum.
NCBI Conserved Domains — summary generated by Brevi Assistant
DOMON-like domains can be discovered in all three kindgoms of life and are a varied team of ligand binding domains that have been revealed to communicate with sugars and hemes. DOMON domains were originally believed to give protein-protein interactions. The domain connects with sugars in the type 9 carb binding modules, which exist in a variety of glycosyl hydrolases, and it can additionally be found at the N-terminus of sensing unit histidine kinases. Laboratory of Genetics and Physiology 2 is among three participants of the RIG-Ilike Receptor family. RLRs are cytoplasmic RNA receptors that identify non-self RNA and function as molecular sensing units to identify viral virus. LGP2 lacks the caspase activation and employment domains that exist in various other RLRs, which launch downstream signaling upon viral RNA sensing. Retinoic acid-inducible gene -Ilike Receptors are cytoplasmic RNA receptors that identify non-self RNA and work as molecular sensors to detect viral pathogens. Cereblon belongs to an E3 ubiquitin ligase complicated, along with broken DNA binding protein 1, CUL4A and ROC1. Mutations in CRBN, several of which map onto the C-terminal domain, were related to autosomal recessive mental deficiency, which may involve communications between CRBN and ion channels in the brain.
- https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=417495 — DOMON_like: Domon-like ligand-binding domains.
- https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=276944 — LGP2_C: C-terminal domain of Laboratory of Genetics and Physiology 2 (LGP2), a cytoplasmic viral RNA receptor.
- https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=416942 — RLR_C_like: C-terminal domain of Retinoic acid-inducible gene (RIG)-I-like Receptors, Cereblon (CRBN), and similar protein domains.
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