STX16 Antibody – Mouse Monoclonal

This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]

Function: SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. Ref.9

Subunit structure: Interacts with GCC2. Ref.9

Subcellular location: Golgi apparatus membrane; Single-pass type IV membrane protein. Isoform C: Cytoplasm.

Tissue specificity: Ubiquitous.

Involvement in disease: Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH.Note: The gene represented in this entry is involved in disease pathogenesis. Microdeletions involving STX16 can cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Ref.7 Ref.8

Sequence similarities: Belongs to the syntaxin family.Contains 1 t-SNARE coiled-coil homology domain.

Sequence caution: The sequence AAB69282.1 differs from that shown. Reason: Frameshift at positions 142, 163 and 165. The sequence AAB69283.1 differs from that shown. Reason: Frameshift at positions 142, 163 and 165. The sequence AAC05647.1 differs from that shown. Reason: Frameshift at positions 142, 163 and 165.