PLEKHG4

PLEKHG4
식별자
에일리어스	G4를 포함한 PLEKHG4, ARHGEF44, PRTPHN1, SCA4, 플렉스트린 호몰로지 및 RoGEF 도메인
외부 ID	OMIM : 609526 MGI : 2142544 HomoloGene : 18516 GenCard : PLEKHG4
유전자 위치(인간)
크르.	16번 염색체(인간)
끝.	67,289,499 bp
유전자 위치(마우스)
크르.	8번 염색체(쥐)
끝.	106,494 bp
RNA발현패턴
	상단 표시 위치:
	경골 신경; ; 유즙관; ; 사지 피부; ; 복부 피부; ; 비장; ; 피하 지방 조직; ; 신경절 융기; ; 경골; ; 췌장체; ; 소침샘;
	추가 참조 표현식 데이터
	없음
맞춤법
	25894
	102075
	ENSG00000196155
	ENSMUSG000014782
	Q58EX7
	없음
	NM_001129727; NM_001129728; NM_001129729; NM_001129731; NM_015432
	NM_001081333; NM_175321; NM_001364406
	NP_001123199; NP_001123200; NP_001123201; NP_001123203
	없음
	위키데이터
인간 보기/편집	마우스 표시/편집

Puratrophin-1은 PLEKHG4 ^[5]^[6]^[7]유전자에 의해 인간에게 암호화되는 단백질이다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000196155 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000014782 - 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.
^ Wieczorek S, Arning L, Alheite I, Epplen JT (Apr 2006). "Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population". J Hum Genet. 51 (4): 363–7. doi:10.1007/s10038-006-0372-y. PMID 16491300.
^ Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H (Jul 2005). "An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains". Am J Hum Genet. 77 (2): 280–96. doi:10.1086/432518. PMC 1224530. PMID 16001362.
^ "Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4".

추가 정보

Flanigan K, Gardner K, Alderson K, et al. (1996). "Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1". Am. J. Hum. Genet. 59 (2): 392–9. PMC 1914712. PMID 8755926.
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.
Hellenbroich Y, Bubel S, Pawlack H, et al. (2003). "Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region". J. Neurol. 250 (6): 668–71. doi:10.1007/s00415-003-1052-x. PMID 12796826. S2CID 24535657.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hirano R, Takashima H, Okubo R, et al. (2005). "Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families". Neurogenetics. 5 (4): 215–21. doi:10.1007/s10048-004-0194-z. PMID 15455264. S2CID 34569635.
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.
Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
Ouyang Y, Sakoe K, Shimazaki H, et al. (2006). "16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study". J. Neurol. Sci. 247 (2): 180–6. doi:10.1016/j.jns.2006.04.009. PMID 16780885. S2CID 35623283.
Nozaki H, Ikeuchi T, Kawakami A, et al. (2007). "Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population". Mov. Disord. 22 (6): 857–62. doi:10.1002/mds.21443. PMID 17357132. S2CID 7082224.
Amino T, Ishikawa K, Toru S, et al. (2007). "Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia". J. Hum. Genet. 52 (8): 643–9. doi:10.1007/s10038-007-0154-1. PMID 17611710.

인간 염색체 16번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000196155 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000014782 - 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.

[pmid16491300-5] Wieczorek S, Arning L, Alheite I, Epplen JT (Apr 2006). "Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population". J Hum Genet. 51 (4): 363–7. doi:10.1007/s10038-006-0372-y. PMID 16491300.

[pmid16001362-6] Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H (Jul 2005). "An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains". Am J Hum Genet. 77 (2): 280–96. doi:10.1086/432518. PMC 1224530. PMID 16001362.

[entrez-7] "Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4".

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PLEKHG4

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