SGSH

SGSH
사용 가능한 구조물
PDB	휴먼 유니프로트 검색: PDBe RCSB
PDB ID 코드 목록
	4MHX, 4MIV
식별자
별칭	SGSH, HSS, MPS3A, SFMD, N-설포글루코사민술폰하이드롤라아제
외부 ID	OMIM: 605270 MGI: 1350341 HomoloGene: 167 GeneCard: SGSH
유전자 위치(인간)
쳇.	17번 염색체(인간)
끝	80,220,923 bp
유전자 위치(마우스)
쳇.	11번 염색체(쥐)
끝	119,355,536 bp
RNA 표현 패턴
	표현된 상단
	비장의; ; 전립선의; ; 부신; ; 경조 침샘;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	황 에스테르 하이드롤라제 활동; 수산화효소 활동; 금속 이온 결합; 촉매 활성; N-설포글루코사민술폰하이드롤라제 활성;
셀룰러 컴포넌트	라이소솜 루멘; 세포외 외성체; 리소솜;
생물학적 과정	신진대사를 하다; 글리코사미노글리칸 카타볼리 공정; 황산헤파란 황산 프로테오글리칸 카타볼릭 공정;
	출처:아미고 / 퀵고
직교체
	6448
	27029
	ENSG00000181523
	ENSMUSG00000005043
	P51688
	n/a
	NM_000199; NM_001352921; NM_001352922
	NM_018822
	NP_000190; NP_001339850; NP_001339851
	n/a
	위키다타
인간 보기/편집	마우스 보기/편집

N-sulphoglucosamine sulfohydrolase는 인간에게 SGSH 유전자에 의해 암호화된 효소다.^[5]^[6]null

임상적 유의성

숫자 기호(#)가 이 항목과 함께 사용된다. 왜냐하면 표현형은 N-술포글루코사민 설포하이드롤라아제(SGSH; MIM 605270) 유전자 부호화의 돌연변이에 의해 발생하기 때문이다.산필리포증후군(Sanfilipo syndrome, 즉 점막다당체증 III)은 헤파란 황산염의 분해능 저하로 인한 리소솜성 저장성 질환이다.^[7]MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940).산필리프 증후군은 중추신경계 퇴화가 심하지만 가벼운 체질환만 나타나는 것이 특징이다.임상적 특징의 시작은 보통 2년에서 6년 사이에 일어나며, 6세에서 10세 사이의 대부분의 환자에게는 심한 신경성 변형이 발생하며, 사망은 일반적으로 2세 또는 3세기에 발생한다.A형은 초기에 발병하고 증상이^[8] 빠르게 진행되며 생존이 짧아 가장 심각한 것으로 보고됐다.^[6]null

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000181523 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG00000005043 - 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.
^ Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (Dec 1995). "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nature Genetics. 11 (4): 465–7. doi:10.1038/ng1295-465. PMID 7493035. S2CID 25869397.
^ ^a ^b "Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)".
^ Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
^ van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310. S2CID 24826103.

추가 읽기

Yogalingam G, Hopwood JJ (Oct 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611. S2CID 25731955.
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310. S2CID 24826103.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ (Aug 1996). "Structure and sequence of the human sulphamidase gene". DNA Research. 3 (4): 269–71. doi:10.1093/dnares/3.4.269. PMID 8946167.
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ (May 1997). "Molecular defects in Sanfilippo syndrome type A". Human Molecular Genetics. 6 (5): 787–91. doi:10.1093/hmg/6.5.787. PMID 9158154.
Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ (Sep 1997). "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Human Molecular Genetics. 6 (9): 1573–9. doi:10.1093/hmg/6.9.1573. PMID 9285796.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A (1998). "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Human Mutation. 10 (6): 479–85. doi:10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. PMID 9401012.
Bielicki J, Hopwood JJ, Melville EL, Anson DS (Jan 1998). "Recombinant human sulphamidase: expression, amplification, purification and characterization". The Biochemical Journal. 329 (Pt 1): 145–50. doi:10.1042/bj3290145. PMC 1219025. PMID 9405287.
Di Natale P, Balzano N, Esposito S, Villani GR (1998). "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations". Human Mutation. 11 (4): 313–20. doi:10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. PMID 9554748.
Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ (Jun 1998). "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". Journal of Inherited Metabolic Disease. 21 (4): 416–22. doi:10.1023/A:1005362826552. PMID 9700599. S2CID 9346499.
Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D (1998). "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Human Mutation. 12 (4): 274–9. doi:10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. PMID 9744479.
Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R (Oct 1999). "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenatal Diagnosis. 19 (10): 993–4. doi:10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L. PMID 10521831.
Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L (May 2001). "Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation". American Journal of Medical Genetics. 100 (3): 223–8. doi:10.1002/ajmg.1248. PMID 11343308.
Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ (Feb 2002). "Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B". Human Mutation. 19 (2): 184–5. doi:10.1002/humu.9009. PMID 11793481. S2CID 35508263.
Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A (Apr 2003). "Analysis of Sanfilippo A gene mutations in a large pedigree". Clinical Genetics. 63 (4): 314–8. doi:10.1034/j.1399-0004.2003.00053.x. PMID 12702166. S2CID 39262556.

17번 염색체의 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000181523 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG00000005043 - 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.

[pmid7493035-5] Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (Dec 1995). "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nature Genetics. 11 (4): 465–7. doi:10.1038/ng1295-465. PMID 7493035. S2CID 25869397.

[entrez-6] "Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)".

[7] Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.

[8] van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310. S2CID 24826103.

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SGSH

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임상적 유의성

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