TCIRG1base: Autosomal recessive osteopetrosis (arOP)

Version 1.4 last updated 16 June, 2011 contains 55 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the TCIRG1base :

Defects in TCIRG1 are a cause of autosomal recessive osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The defect is an heterogeneous disorder of bone metabolism, which, if untreated, has a fatal outcome. It occurs in two forms: a severe autosomal recessive form, occurring in utero, infancy, or childhood, and a benign autosomal dominant form, occurring in adolescence or adulthood. Mild and atypical forms have also been reported.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: TCIRG1base