VPS45
Function
May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
Involvement in disease
Neutropenia, severe congenital 5, autosomal recessive
SCN5
An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the STXBP/unc-18/SEC1 family.
Tissue Specificity
Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liver.
Cellular localization
- Golgi apparatus membrane
- Peripheral membrane protein
- Endosome membrane
- Peripheral membrane protein
- Associated with Golgi/endosomal vesicles and the trans-Golgi network.
Alternative names
VPS45A, VPS45B, VPS45, Vacuolar protein sorting-associated protein 45, h-VPS45, hlVps45