Alkuraya-Kucinskas syndrome

Definition:

Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome. ALKKUCS is required for synaptic vesicle recycling.

References:

[1]. Lucie Gueneau, et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Am J Hum Genet. 2018 Jan 4;102(1):116-132. [Content Brief]

[2]. Patrik Verstreken, et al. Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling. Neuron. 2009 Jul 30;63(2):203-15. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.