GDAP1

GDAP1
식별자
에일리어스	GDAP1, CMT4, CMT4A, CMTRIA, 간글리오시드 유도 분화 관련 단백질 1
외부 ID	OMIM: 606598 MGI: 1338002 HomoloGene: 40713 GenCard: GDAP1
유전자 위치(인간)
크르.	8번 염색체(인간)
끝.	74,518,007 bp
유전자 위치(마우스)
크르.	1번 염색체(마우스)
끝.	17,234,495 bp
RNA발현패턴
	상단 표시 위치:
	내피 세포; ; 이차 난모세포; ; 브로드만 23구역; ; 소뇌충; ; 후중심회; ; 장피질; ; 핀; ; 중측두회; ; 상전두회; ; 상전정핵;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	글루타티온전달효소활성;
셀룰러 컴포넌트	막의 적분 성분; 미토콘드리아 외막; 미토콘드리아 외막의 일체 성분; 막; 미토콘드리아; 핵; 세포질; 세포;
생물학적 과정	미토콘드리아 융합; 미토콘드리아를 표적으로 하는 단백질; 레티노인산에 대한 반응; 미토콘드리아 핵분열; 비타민 D에 대한 세포 반응; 글루타치온 대사 과정; 미토콘드리아 조직;
	출처:아미고 / QuickGO
맞춤법
	54332
	14545
	ENSG00000104381
	ENSMUSG000025777
	Q8 TB36
	O88741
NM_001040875; NM_018972; NM_00136299; NM_001362930; NM_001362931;
	NM_001362932
	NM_010267
NP_001035808; NP_061845; NP_001349858; NP_001349859; NP_001349860;
	NP_001349861
	NP_034397
	위키데이터
인간 보기/편집	마우스 표시/편집

강리오시드 유도 분화 관련 단백질 1은 GDAP1 ^[5]^[6]유전자에 의해 인체 내에서 부호화되는 단백질의 일종이다.

이 유전자는 신경 발달 중 신호 전달 경로에서 역할을 할 수 있는 간글리오시드 유도 분화 관련 단백질 패밀리의 구성원을 암호화한다.이 유전자의 돌연변이는 다양한 형태의 샤르콧 마리투스 질병과 신경 장애와 연관되어 왔다.이 ^[6]유전자에 대해 서로 다른 아이소폼을 코드하는 두 가지 전사 변형이 확인되었다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000104381 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000025777 - 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.
^ Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID 54332.
^ ^a ^b "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1".

추가 정보

Liu H, Nakagawa T, Kanematsu T, et al. (1999). "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene". J. Neurochem. 72 (5): 1781–90. doi:10.1046/j.1471-4159.1999.0721781.x. PMID 10217254. S2CID 8214053.
Brockington M, Blake DJ, Prandini P, et al. (2002). "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan". Am. J. Hum. Genet. 69 (6): 1198–209. doi:10.1086/324412. PMC 1235559. PMID 11592034.
Baxter RV, Ben Othmane K, Rochelle JM, et al. (2002). "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nat. Genet. 30 (1): 21–2. doi:10.1038/ng796. PMID 11743579. S2CID 11340817.
Cuesta A, Pedrola L, Sevilla T, et al. (2002). "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease". Nat. Genet. 30 (1): 22–5. doi:10.1038/ng798. PMID 11743580. S2CID 1120901.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Nelis E, Erdem S, Van Den Bergh PY, et al. (2003). "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology. 59 (12): 1865–72. doi:10.1212/01.wnl.0000036272.36047.54. PMID 12499475. S2CID 34484332.
Senderek J, Bergmann C, Ramaekers VT, et al. (2003). "Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy". Brain. 126 (Pt 3): 642–9. doi:10.1093/brain/awg068. PMID 12566285.
Boerkoel CF, Takashima H, Nakagawa M, et al. (2003). "CMT4A: identification of a Hispanic GDAP1 founder mutation". Ann. Neurol. 53 (3): 400–5. doi:10.1002/ana.10505. PMID 12601710. S2CID 28683764.
Birouk N, Azzedine H, Dubourg O, et al. (2003). "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene". Arch. Neurol. 60 (4): 598–604. doi:10.1001/archneur.60.4.598. PMID 12707075.
Azzedine H, Ruberg M, Ente D, et al. (2003). "Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene". Neuromuscul. Disord. 13 (4): 341–6. doi:10.1016/S0960-8966(02)00281-X. PMID 12868504. S2CID 28668205.
Ammar N, Nelis E, Merlini L, et al. (2003). "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscul. Disord. 13 (9): 720–8. doi:10.1016/S0960-8966(03)00093-2. PMID 14561495. S2CID 22727918.
Stojkovic T, Latour P, Viet G, et al. (2004). "Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene". Neuromuscul. Disord. 14 (4): 261–4. doi:10.1016/j.nmd.2004.01.003. PMID 15019704. S2CID 28092053.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Pedrola L, Espert A, Wu X, et al. (2005). "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria". Hum. Mol. Genet. 14 (8): 1087–94. doi:10.1093/hmg/ddi121. PMID 15772096.
Claramunt R, Pedrola L, Sevilla T, et al. (2006). "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". J. Med. Genet. 42 (4): 358–65. doi:10.1136/jmg.2004.022178. PMC 1736030. PMID 15805163.
Kabzińska D, Kochański A, Drac H, et al. (2006). "A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease". J. Neurol. Sci. 241 (1–2): 7–11. doi:10.1016/j.jns.2005.10.002. PMID 16343542. S2CID 11433631.
Biancheri R, Zara F, Striano P, et al. (2007). "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". J. Neurol. 253 (9): 1234–5. doi:10.1007/s00415-006-0149-4. PMID 16607474. S2CID 1418015.
Shield AJ, Murray TP, Board PG (2006). "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase". Biochem. Biophys. Res. Commun. 347 (4): 859–66. doi:10.1016/j.bbrc.2006.06.189. PMID 16857173.
Baránková L, Vyhnálková E, Züchner S, et al. (2007). "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscul. Disord. 17 (6): 482–9. doi:10.1016/j.nmd.2007.02.010. PMID 17433678. S2CID 29318571.

외부 링크

Bird, Thomas D (30 January 2014). "Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot-Marie-Tooth Neuropathy Type 2. University of Washington, Seattle. PMID 20301462. NBK1285. 인
Bird, Thomas D (2013-09-26). "Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot-Marie-Tooth Neuropathy Type 4. University of Washington, Seattle. NBK1468. Gene Reviews에서
Züchner, Stephan; Vance, Jeffery M (2013-02-28). "GDAP1-Related Hereditary Motor and Sensory Neuropathy". Charcot-Marie-Tooth Neuropathy Type 4A. University of Washington, Seattle. NBK1539. Gene Reviews에서

인간 염색체 8번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000104381 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000025777 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid54332-5] Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID 54332.

[entrez-6] "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1".

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