Leucine Zipper Like Transcription Regulator 1 (LZTR1)

LZTR1 encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Golgi complex. The gene, designated LZTR1 by them, was transcribed in several essential fetal organs and proved to be hemizygously deleted in 7 of 8 DGS patients or its variants. Although LZTR1 did not locate in the shortest region of overlap of DGS, several of its structural characteristics identified it as a transcriptional regulator, suggesting that it plays a crucial role in embryogenesis and that haploinsufficiency of this gene may be partly responsible for the developmental abnormalities of DGS.