COPD

COPD (Pulmonary Disease, Chronic Obstructive, Severe Early-Onset) is a Genetic Locus. Diseases associated with COPD include Pulmonary Disease, Chronic Obstructive.

Pulmonary Disease, Chronic Obstructive, Severe Early-Onset

Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).

Endoplasmic reticulum to Golgi vesicle-mediated transport Source: GO_Central
Golgi localization Source: GO_Central
Intracellular protein transport Source: ProtInc
Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum Source: GO_Central

Golgi apparatus membrane; Cytoplasm; COPI-coated vesicle membrane. The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it.

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD):
The disease is caused by variants affecting the gene represented in this entry. the skeletal phenotype, that characterizes this disorder, may be due to defective type I collagen transport and reduction of collagen secretion. A disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay.