호모 사피엔스 종의 단백질 코드 유전자
Rho 관련 BTB 도메인 함유 단백질 2는 RHOBTB2 [5] [6] 단백질 이다.
RHOBTB2는 Rho GTPases 의 진화적으로 보존된 RhoBTB 서브패밀리의 구성원이다. RoBTB 의 배경 정보에 대해서는, 「RHOBTB1 」(MIM 607351)을 참조해 주세요. [OMIM [6]
임상적 의의 RHOBTB2에 영향 을 미치는 돌연변이는 간질을 유발할 수 있으며, 이변이성 [7] [8] RHOBTB2 관련 질환은 상염색체 우성 질환이며, 이는 질병을 일으키기 위해 유전자의 두 복사본 중 하나만 돌연변이가 필요하다는 것을 의미한다. 돌연변이는 보통 유전되지 않고 영향을 받은 개체에서 발생하는 새로운 돌연변이로 발생 한다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000008853 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000022075 - 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 .^ Rivero F, Dislich H, Glockner G, Noegel AA (Mar 2001). "The Dictyostelium discoideum family of Rho-related proteins" . Nucleic Acids Res . 29 (5): 1068–79. doi :10.1093/nar/29.5.1068 . PMC 29714 PMID 11222756 . ^ a b "Entrez Gene: RHOBTB2 Rho-related BTB domain containing 2" .^ Belal H, Nakashima M, Matsumoto H, et al. (2018). "De novo variants in RHOBTB2, an atypical Rho GTPase, cause epileptic encephalopathy" . Hum Mutat . 39 (8): 1070–75. doi :10.1002/humu.23550 PMID 29768694 . ^ Zagaglia, Sara; Steel, Dora; Krithika, S; Hernandez-Hernandez, Laura; Custodio, Helena Martins; et al. (2021-01-27). "RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood" . Neurology . 96 (11): e1539–e1550. doi :10.1212/WNL.0000000000011543 . ISSN 0028-3878 . PMC 8032376 PMID 33504645 .
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