Dcc Interacting Protein 13 Beta
From Anvita Health Wiki
Contents |
Function
- regulation of cell proliferation
- response to extracellular signals
- mediated by an early endosomal compartment
- links Rab5 to nuclear signal transduction
- binds RAB5A leading to recruitment to endosomal membranes & role in cell proliferation
- binds subunits of the NuRD/ MeCP1 complex
Compartment
- early endosomal membrane, peripheral membrane, nucleus
- translocation into the nucleus upon release from endosomal membranes following internalization of EGF
Expression
- expressed in high levels in brain, heart, kidney, skeletal muscle
Pathology
- chromosomal aberration involving DIP13B is associated with chromosome 22q13.3 deletion syndrome
- translocation t(12;22)(q24.1;q13.3) with SHANK3
More General Terms
Internet Database
OMIM: 606231
OMIM: 606232
Prosite: [1]
Prosite: [2]
UniProt: [3]
References
UniProt [4]
