Syntaxin 3

Potentially involved in docking of synaptic vesicles at presynaptic active zones. Apical receptor involved in membrane fusion of apical vesicles.

Isoform B

Essential for survival of retinal photoreceetors.

Isoform 3

Functions as a regulator of gene expression.

Retinal dystrophy and microvillus inclusion disease

RDMVID

An autosomal recessive disease characterized by early-onset, severe retinal dystrophy associated with intractable congenital diarrhea. Intestinal biopsies show loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes.

None

The disease is caused by variants affecting the gene represented in this entry.

Diarrhea 12, with microvillus atrophy

DIAR12

An autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. DIAR12 can be diagnosed based on variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the syntaxin family.

Isoform A

Expressed in small intestine, kidney, pancreas, placenta as well as in retina. Weaker expression in lung, liver and heart. Not expressed in brain and skeletal muscle.

Isoform B

Expressed only in the retina.

Isoform 3

Ubiquitously expressed.

• Isoform A
• Apical cell membrane
• Single-pass type IV membrane protein
• Localized to the inner and outer plexiform layers, the cell body and the inner segments of photoreceptors.
• Isoform 3
• Nucleus

STX3A, STX3, Syntaxin-3

• entrezGene:6809
• omim:600876
• swissprot:Q13277

Proteins

Neuroscience

33155Da