AG6

AG6
식별자
별칭	ALG6, CDG1C, 알파-1, 3-글루코실전달효소, ALG6 알파-1,3-글루코실전달효소
외부 ID	OMIM: 604566 MGI: 2444031 호몰로진: 6920 GeneCard: ALG6
유전자 위치(인간)
쳇.	염색체 1 (인간)
끝	63,438,553 bp
유전자 위치(마우스)
쳇.	4번 염색체(쥐)
끝	99,651,697 bp
RNA 표현 패턴
	표현된 상단
	망막색소 상피; ; 콩팥을; ; 뱃속; ; 피부 영역; ; 자궁내막; ; 폐를 끼치다; ; 모낭; ; 림프절;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	전이효소 활동; 헥소실전달효소 활동; 글루코실전달효소 활성; 돌리칠 피로인산염 만9GlcNAc2 알파-1,3-글루코실전달효소 활성; 글리코실전달효소 활성; dolichyl-synchron-synchron-synchron-collipid alpha-syn;
셀룰러 컴포넌트	막의 적분 성분; 소포체 망막; 막으로 막다; 소포체성 망막;
생물학적 과정	단백질 당화; 돌리콜 연계 올리고당류 생합성 과정; 올리고당-지질 중간 생합성 과정; 단백질 N 연계 글리코실화;
	출처:아미고 / 퀵고
직교체
	29929
	320438
	ENSG00000088035
	ENSMUSG000073792
	Q9Y672
	Q3TAE8
	NM_013339
	NM_001081264
	NP_037471
	NP_001074733
	위키다타
인간 보기/편집	마우스 보기/편집

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyl transferase는 인간에서 ALG6 유전자에 의해 암호화된 효소다.^[5]^[6]^[7]

함수

이 유전자는 ALG6/ALG8 글루코실트전달효소 계열의 한 구성원을 인코딩한다.인코딩된 단백질은 N연계 글리코실화의 증가하는 지질연계 올리고당류 전구체에 첫 번째 포도당 잔류물의 첨가를 촉진한다.이 유전자의 돌연변이는 글리코실레이션 타입 Ic의 선천성 질환과 관련이 있다.^[7]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG000088035 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000073792 - 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.
^ Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T (Jun 1999). "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proceedings of the National Academy of Sciences of the United States of America. 96 (12): 6982–7. Bibcode:1999PNAS...96.6982I. doi:10.1073/pnas.96.12.6982. PMC 22030. PMID 10359825.
^ Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH (Mar 2002). "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Human Molecular Genetics. 11 (5): 599–604. doi:10.1093/hmg/11.5.599. PMID 11875054.
^ ^a ^b "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

추가 읽기

Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M (Aug 1998). "A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide". The Journal of Clinical Investigation. 102 (4): 647–52. doi:10.1172/JCI2266. PMC 508925. PMID 9710431.
Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K (Oct 1998). "Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase" (PDF). Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13200–5. Bibcode:1998PNAS...9513200K. doi:10.1073/pnas.95.22.13200. PMC 23759. PMID 9789065.
Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T (May 2000). "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic". Human Genetics. 106 (5): 538–45. doi:10.1007/s004390050022. PMID 10914684.
Westphal V, Schottstädt C, Marquardt T, Freeze HH (Jul 2000). "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic". Molecular Genetics and Metabolism. 70 (3): 219–23. doi:10.1006/mgme.2000.3017. PMID 10924277.
Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH (Dec 2000). "Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation". The American Journal of Pathology. 157 (6): 1917–25. doi:10.1016/S0002-9440(10)64830-4. PMC 1885788. PMID 11106564.
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V (Jan 2001). "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases". Journal of Medical Genetics. 38 (1): 14–9. doi:10.1136/jmg.38.1.14. PMC 1734729. PMID 11134235.
Vuillaumier-Barrot S, Le Bizec C, Durand G, Seta N (2001). "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic". Journal of Human Genetics. 46 (9): 547–8. doi:10.1007/s100380170038. PMID 11558905.
Oriol R, Martinez-Duncker I, Chantret I, Mollicone R, Codogno P (Sep 2002). "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate". Molecular Biology and Evolution. 19 (9): 1451–63. doi:10.1093/oxfordjournals.molbev.a004208. PMID 12200473.
Schollen E, Martens K, Geuzens E, Matthijs G (Oct 2002). "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)". European Journal of Human Genetics. 10 (10): 643–8. doi:10.1038/sj.ejhg.5200858. PMID 12357336.
Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J, Toyama Y, Umezawa A (Aug 2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Experimental Cell Research. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
Westphal V, Xiao M, Kwok PY, Freeze HH (Nov 2003). "Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic". Human Mutation. 22 (5): 420–1. doi:10.1002/humu.9195. PMID 14517965.
Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH (Jan 2006). "Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation". Biochemical and Biophysical Research Communications. 339 (3): 755–60. doi:10.1016/j.bbrc.2005.11.073. PMID 16321363.

외부 링크

글리코실레이션의 선천성 질환에 대한 GeneReviews/NCBI/NIH/UW 입력 개요
UCSC 게놈 브라우저의 인간 ALG6 유전체 위치 및 ALG6 유전자 세부 정보 페이지.

인간 염색체 1번 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG000088035 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000073792 - 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.

[pmid10359825-5] Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T (Jun 1999). "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proceedings of the National Academy of Sciences of the United States of America. 96 (12): 6982–7. Bibcode:1999PNAS...96.6982I. doi:10.1073/pnas.96.12.6982. PMC 22030. PMID 10359825.

[pmid11875054-6] Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH (Mar 2002). "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Human Molecular Genetics. 11 (5): 599–604. doi:10.1093/hmg/11.5.599. PMID 11875054.

[entrez-7] "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

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AG6

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