PAT complex subunit CCDC47
Definition:
References:
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[1]. Philip T McGilvray, et al. An ER translocon for multi-pass membrane protein biogenesis. Elife. 2020 Aug 21;9:e56889. [Content Brief]
[2]. Patrick J Chitwood, et al. An intramembrane chaperone complex facilitates membrane protein biogenesis. Nature. 2020 Aug;584(7822):630-634. [Content Brief]
[3]. Shinichiro Yamamoto, et al. Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity. Dev Biol. 2014 Sep 1;393(1):33-43. [Content Brief]
[4]. Marie Morimoto, et al. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 Nov 1;103(5):794-807. [Content Brief]