MAPBPIPbase: Endosomal adaptor protein p14 deficiency

Version 1.0 last updated 21 August, 2008 contains 4 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the MAPBPIPbase :

p14 deficiency resembles known lysosomal diseases associating partial albinism and immunodeficiency, such as Chediak-Higashi syndrome (LYST deficiency), Griscelli syndrome type 2 (RABD27A deficiency) or Hermansky-Pudlak syndrome type 2 (HPS2, AP3B1 deficiency). The point mutation of p14 leads to decreased RNA stability, decreased protein levels and aberrant lysosomal function.

Other resourses:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: MAPBPIPbase