TSC2

TSC2
TSC2
식별자
별칭TSC2, LAM, PPP1R160, TSC4, 결핵성 경화증 2, TSC 복합 소단위 2
외부 IDOMIM: 191092 MGI: 102548 HomoloGene: 462 GeneCard: TSC2
직교체
종인간마우스
엔트레스

7249

22084

앙상블

ENSG00000103197

ENSMUSG00000002496

유니프로트

P49815

Q61037

RefSeq(mRNA)
RefSeq(단백질)

n/a

위치(UCSC)Cr 16: 2.05 – 2.09MbCr 17: 24.81 – 24.85Mb
PubMed 검색[3][4]
위키다타
인간 보기/편집마우스 보기/편집

Tuberin이라고도 알려진 TSC2(Tubulus Sclerosis Complex 2)는 인간에서 TSC2 유전자에 의해 인코딩되는 단백질이다.

함수

이 유전자의 돌연변이는 결핵성 경화증을 일으킨다.그것의 유전자 생산물은 종양 억제기로 믿어지고 특정한 GTPas를 자극할 수 있다.유전자 TSC1에 의해 암호화된 하마틴은 Tubain의 보호에서 Hsp90의 촉진자 역할을 하므로 단백질의 편재와 열화를 방지한다.[5]대체 스플라이싱은 단백질의 다른 ISO 형태를 인코딩하는 다중 대본 변형을 초래한다.[6]TSC2의 돌연변이는 폐에 조직이 비대해져 낭종과 종양이 생기고 호흡곤란을 일으키는 림프강경련증을 유발할 수 있다.Tuberin은 하마틴 단백질과 함께 세포의 크기를 조절하기 때문에 TSC1과 TSC2 유전자에 대한 돌연변이는 개인의 폐에서 세포성장의 조절을 방해할 수 있다.[5]

세포 병리학

TSC2 유전자에 병원성 돌연변이를 가진 개인의 세포는 라이소솜의 고갈, 자가포자기의 손상, 글리코겐의 비정상적 축적을 나타낸다.자가포기-리소솜 경로의 결함은 LC3와 LAMP1/2 단백질의 과도한 편재 및 분해와 관련이 있다.[7]

신호 경로

ERK1/2의 약리학적 억제는 결핵성 경화증 모델에서 GSK3β 활성도와 단백질 합성 수준을 회복시킨다.[8]

자가포기-리소솜 경로에 의한 글리코겐의 결함 열화는 적어도 부분적으로는 mTORC1의 손상된 규제와는 무관하며 PKB/Akt와 mTORC1 약리억제제의 결합 사용에 의해 복원된다.[7]

상호작용

TSC2는 핵심 단백질인 TSC2, [9][10]TSC1, TBC1D7로 구성된 TSC 복합체로 알려진 다단백질 내에서 기능한다.

TSC2는 TSC 복합체의 일부가 아닌 여러 다른 단백질과 상호작용하는 것으로 보고되었다.

참고 항목

참조

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  2. ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG00000002496 - 앙상블, 2017년 5월
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