STX11 syntaxin 11

Gene ID: 8676, updated on 5-Mar-2024
Gene type: protein coding
Also known as: FHL4; HLH4; HPLH4

Summary

This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Familial hemophagocytic lymphohistiocytosis 4 MedGen: C1863728OMIM: 603552GeneReviews: Not available	See labs

Genomic context

Location:: 6q24.2

Sequence:: Chromosome: 6; NC_000006.12 (144139963..144191939)

Total number of exons:: 7

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 STX11 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CCHMC - Human Genetics Mutation Database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
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
STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Variation Viewer
Related Variants

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