LZTR1 leucine zipper like post translational regulator 1

Gene ID: 8216, updated on 5-Mar-2024
Gene type: protein coding
Also known as: NS2; NS10; BTBD29; LZTR-1; SWNTS2

Summary

This gene 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 Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Noonan syndrome 10 MedGen: C4225280OMIM: 616564GeneReviews: Noonan Syndrome	See labs
Noonan syndrome 2 MedGen: C1854469OMIM: 605275GeneReviews: Noonan Syndrome	See labs
Schwannomatosis MedGen: C1335929GeneReviews: LZTR1- and SMARCB1-Related Schwannomatosis	See labs
Schwannomatosis 2 MedGen: C3810283OMIM: 615670GeneReviews: LZTR1- and SMARCB1-Related Schwannomatosis	See labs

Genomic context

Location:: 22q11.21; 22q11.1-q11.2

Sequence:: Chromosome: 22; NC_000022.11 (20982297..20999032)

Total number of exons:: 21

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for LZTR1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
LZTR1 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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