Elastinproteiini
Elastinproteiini, known in English as elastin, is a highly elastic protein that provides durability and resilience to various connective tissues throughout the body. It is a key component of the extracellular matrix and is especially abundant in elastic arteries, skin, lungs, and the elastic fibres of the sclera and certain ligaments. The protein is encoded primarily by the ELN gene located on chromosome 7q21–q22. Elongation of fibroblasts in both embryonic and adult tissues results in the deposition of elastin fibres, which are cross‑linked by lysyl oxidase to form a durable network.
Elastin is composed of a hydroxyproline‑rich core domain interspersed with glycine‑rich repeats, enabling it to contract
Genotype–phenotype studies reveal that mutations in ELN or in genes regulating the cross‑linking process can lead
Diagnosis of elastin-related disorders typically involves molecular genetic testing, histological examination of tissue biopsies to assess