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GENATLAS PHENOTYPE

last update : 06-04-2013

Symbol	MTCP2
Location	14q24.1
Name	macrothrombocytopenia 2
Corresponding gene	ACTN1
Main clinical features	congenital macrothrombocytopenia, rare platelet disorder characterized by a congenital reduction of platelet counts and abnormally large platelets macrothrombocytopenia was accompanied by anisocytosis, and bleeding diathesis was absent
Genetic determination	autosomal dominant
Prevalence	5.5p100 of the dominant forms of congenital macrothrombocytopenia cases
Function/system disorder	hematology
Type	disease

Remark(s)

all ACTN1 variants caused varying degrees of disorganization of the actin filaments in variant-transduced cells, in which ACTN1 colocalized with less fine, shortened actin filaments and in which unbound ACTN1 was coarsely distributed within the cytoplasm (PMID: 23434115))