Table 2.
Diseases caused by mutations in COPI
| Coat | Component | Gene (locus) | Disease1 | OMIM2 | Inheritance | Mutation types | Key References |
|---|---|---|---|---|---|---|---|
| COPI | α-COP | COPA (1q23.2) | COPA syndrome (Autoimmune interstitial lung, joint, and kidney disease; AILJK) | 616414 | Autosomal dominant with incomplete penetrance | Missense | Watkin et al. 2015 |
| β’-COP | COPB2 (3q23) | Microcephaly 19, primary, autosomal recessive (MCPH19) | 617800 | Autosomal recessive | Missense | DiStasio et al., 2017 | |
| δ-COP | ARCN1 (11q23.3) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD) | 617164 | Autosomal recessive | Nonsense, Frameshift | Izumi et al., 2016 |
1.
Disease acronyms or alternative names are given in parentheses.
2.
Online Mendelian Inheritance in Man (https://www.omim.org/).