CYTH3
Description
The CYTH3 (cytohesin 3) is a protein-coding gene located on chromosome 7.
Cytohesin-3 is a protein encoded by the CYTH3 gene in humans. It belongs to the cytohesin (CYTH) family, previously known as the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. All members of the cytohesin family share a similar structure, featuring an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif facilitates homodimerization, the Sec7 domain exhibits guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids, anchoring CYTHs to membranes. The cytohesin family is believed to regulate protein sorting and membrane trafficking. Cytohesin-3 specifically controls Golgi structure and function. It may regulate ADP-ribosylation factor protein 6 (ARF) functions in addition to its effects on ARF1.
CYTH3 is also known as ARNO3, GRP1, PSCD3, cytohesin-3.
Associated Diseases
- neonatal intrahepatic cholestasis due to citrin deficiency
- Pallister-Hall syndrome
- LIPE-related familial partial lipodystrophy
- glycogen storage disease VI
- PLIN1-related familial partial lipodystrophy
- familial partial lipodystrophy, Kobberling type
- PPARG-related familial partial lipodystrophy
- transient infantile hypertriglyceridemia and hepatosteatosis
- progressive familial intrahepatic cholestasis
- familial partial lipodystrophy, Dunnigan type
- cholesteryl ester storage disease
- AKT2-related familial partial lipodystrophy
