Genetics and Random Facts Flashcards

1
Q

CK1ε

A

Binding region of the hPer2 gene associated with advanced sleep-wake phase disorder.

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2
Q

hPer2 Gene

A

Genetic mutation associated with advanced sleep-wake phase disorder (ASWPD).

This mutation leads to hypophosphorylation of the period protein by CK1ε

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3
Q

PHOX2B gene

A

Associated with congenital central alveolar hypoventilation syndrome.

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4
Q

DQB1*0602

A

Narcolepsy type 1 (narcolepsy with cataplexy) is associated with this HLA subtype.

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