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GENATLAS PHENOTYPE

last update : mct

Symbol	IANHI
Location	12p11.23
Name	isolated anhidrosis
Corresponding gene	ITPR2
Other symbol(s)	ANHD
Main clinical features	isolated anhidrosis, but morphologically normal eccrine sweat glands inability to sweat (anhidrosis) results in heat intolerance that may cause impaired consciousness and death
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)

. mutation is localized within the pore forming region of ITPR2 and abrogates Ca2+ release from the endoplasmic reticulum, which suggests that intracellular Ca2+ release by ITPR2 in clear cells of the sweat glands is important for eccrine sweat production (PMID: 25329695))