TBC1D8B gene

TBC1 domain family member 8B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

From UniProt:

Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.

From NCBI Gene:

  • NEPHROTIC SYNDROME, TYPE 20

From UniProt:

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. [MIM:301028]

Cytogenetic Location: Xq22.3, which is the long (q) arm of the X chromosome at position 22.3

Molecular Location: base pairs 106,802,673 to 106,876,150 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq22.3, which is the long (q) arm of the X chromosome at position 22.3
  • GRAMD8B
  • NPHS20