ROR2
ROR2
신경영양성 티로신 키나제, 수용체 관련 2로도 알려진 티로신-단백질 키나제 트랜스막브레인 수용체 ROR2는 [5][6][7]염색체 9의 긴 팔의 위치 9에 위치한 ROR2 유전자에 의해 인간에서 암호화되는 단백질이다.이 단백질은 뼈와 연골의 성장에 영향을 미친다.ROR2는 수용체 티로신 키나아제 유사 고아 수용체(ROR) 계열의 구성원이다.
기능.
이 유전자에 의해 코드된 단백질은 세포 표면 수용체의 ROR 서브패밀리에 속하는 수용체 티로신 키나아제 및 타입 I 트랜스멤브레인 단백질이다.단백질은 연골세포의 조기 형성에 관여할 수 있으며 연골과 성장판 [5]발달에 필요할 수 있다.
임상적 의의
이 유전자의 돌연변이는 말단 지골과 손톱의 저형성/형성증으로 특징지어지는 골격 질환인 B형 상완화증을 일으킬 수 있다.또한, 이 유전자의 돌연변이는 일반화된 사지뼈의 단축을 수반하는 골격 이형성, 척추의 분할 결함, 상염색체 [5]열성형 호비노 증후군을 일으킬 수 있다.
레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000169071 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000021464 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: receptor tyrosine kinase-like orphan receptor 2".
- ^ Masiakowski P, Carroll RD (December 1992). "A novel family of cell surface receptors with tyrosine kinase-like domain". J. Biol. Chem. 267 (36): 26181–90. doi:10.1016/S0021-9258(18)35733-8. PMID 1334494.
- ^ Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO (March 2000). "Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B". Nat. Genet. 24 (3): 275–8. doi:10.1038/73495. PMID 10700182. S2CID 40179047.
추가 정보
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