STX11

syntaxin 11

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hemophagocytic lymphohistiocytosis, familial, 4

From UniProt:

Familial hemophagocytic lymphohistiocytosis 4 (FHL4): A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. [MIM:603552]

Cytogenetic Location: 6q24.2, which is the long (q) arm of chromosome 6 at position 24.2

Molecular Location: base pairs 144,140,044 to 144,191,939 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q24.2, which is the long (q) arm of chromosome 6 at position 24.2
  • FHL4
  • HLH4
  • HPLH4