TBC1D8B
Developmental stage
Expressed in glomerular podocytes and tubules in the fetal kidney (gestational age 25 weeks)(at protein level).
Domain
The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Function
Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.
Involvement in disease
Nephrotic syndrome 20
NPHS20
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Kidney (at protein level).
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
TBC1 domain family member 8B, TBC1D8B