This report describes a newly characterized disease, neurological disorder with or without progressive infantile liver disease; this disease exhibits autosomal recessive inheritance. The human gene implicated in this disease is YKT6, which encodes a SNARE protein that has multiple functions in different membrane trafficking events. There is a single orthologous gene in Drosophila, Dmel\Ykt6, for which a number of genetic reagents have been generated, including loss-of-function mutations, RNAi-targeting constructs, and overexpression constructs.
The human YKT6 gene has not been introduced into flies.
Animals carrying loss-of-function mutations of Dmel\Ykt6 typically die during the larval or pupal stage. Missense mutations analogous to human YKT6 variants associated with disease have been introduced into the fly Ykt6 gene. See the 'Disease-Implicated Variants' table, below. The ability of the variants to rescue the lethality associated with Ykt6 loss-of-function mutations has been assessed, leading to the conclusion that the two human YKT6 variants identified thus far are hypomophic alleles of differing severity.
[updated Oct. 2024 by FlyBase; FBrf0222196]
The YKT6 gene encodes a vesicular soluble NSF attachment protein receptor (v-SNARE) implicated in vesicular transport between secretory compartments. [GeneCards, YKT6; 2024.20.01]
YKT6 plays multiple functions in different membrane trafficking events, including endoplasmic reticulum to Golgi transport, early/recycling endosome to trans-Golgi network transport, constitutive secretory vesicles-plasma membrane fusion, and autophagosome-lysosome fusion (Ma et al., 2024, pubmed:38522068, and references cited therein).
One to one: 1 human gene to 1 Drosophila gene.
High-scoring ortholog of human YKT6 (1 Drosophila to 1 human).
