The LZTR1 gene (LZTR1 stands for Leucine Zipper Like Post Translational Regulator 1) is a protein-coding gene located on chromosome 22q11.21.
LZTR1 gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The LZTR1 gene encodes a member of the BTB-kelch superfamily. Originally described as a putative transcriptional regulator based on weak homology to members of the Basic Leucine Zipper-like family, the encoded protein has been shown to localize exclusively to the Golgi network, where it may contribute to stabilization of the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome.
Clinical pictureThis section has been translated automatically.
Diseases associated with the LZTR1 gene include:
Diseases associated with LZTR1 include:
- Schwannomatosis 2 (OMIN: 615670)
- and
- Noonan syndrome 10 (OMIN: 616564).