호모 사피엔스 종의 단백질 코드 유전자
BSND 라고도 알려진 감각성 난청이 있는 유아 바터 증후군은 바터 [5] 증후군과 관련된 인간 유전자이다.
이 유전자는 CLC 염화물 채널의 필수 베타 서브유닛을 암호화합니다. 이 헤테로머 채널은 신장세관 과 내이 의 칼륨 분비 상피 기저외막에 국재한다. 이 유전자의 돌연변이는 감각성 [5] 난청 을 가진 바터 증후군과 연관되어 있다.
레퍼런스 외부 링크
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