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GENATLAS PHENOTYPE

last update : 17-01-2009

Symbol	CEPX
Location	Xp11.23
Name	porphyria congenita erythropoietic, X-linked
Corresponding gene	GATA1
Main clinical features	hypochromic, microcytic anemia present from birth; globin chain labeling studies compatible with beta-thalassemia, with high Hb F level suggesting a role for GATA1 in globin switching associated with red urine bone marrow allograft corrected both the porphyria and the thalassemia
Genetic determination	sex linked
Function/system disorder	hematology
Type	disease

Remark(s)

mutation in a trans-acting factor