PMM2

PMM2
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2AMY, 2분기 4R
식별자
에일리어스	PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM2, 포스포만노뮤타아제2
외부 ID	OMIM : 601785 MGI : 1859214 HomoloGene : 257 GenCard : PMM2
유전자 위치(마우스)
크르.	16번 염색체(쥐)
끝.	8,420,331 bp
RNA발현패턴
	상단 표시 위치:
	췌장체; ; 아킬레스건; ; 직장; ; 골수 세포; ; 상부 신경; ; 흉선; ; 십이지장; ; 태반; ; 간우엽; ; 자궁내막;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	이성질화효소활성; GO:0001948 단백질 결합; 포스포만노무타아제활성;
셀룰러 컴포넌트	세포질; 신경세포체; 핵; 세포;
생물학적 과정	단백질 글리코실화; GDP-만노스생합성법; 만노오스 대사 과정; 단백질N결합글리코실화; ER을 표적으로 하는 단백질;
	출처:아미고 / QuickGO
맞춤법
	5373
	54128
	없음
	ENSMUSG000022711
	O15305
	Q9Z2M7
	NM_000303
	NM_016881; NM_001362485
	NP_000294
	NP_058577; NP_001349414
	위키데이터
인간 보기/편집	마우스 표시/편집

포스포만노뮤타아제2는 사람에서 PMM2 유전자에 ^[4]^[5]의해 암호화되는 효소이다.

기능.

포스포만노무타아제 2는 만노스 6-인산의 만노스 1-인산에 대한 이성질화를 촉매한다.만노스 1-인산은 돌리콜-P-올리고당 합성에 필요한 GDP-만노스의 전구체이다.유전자의 돌연변이는 글리코실화 PMM2 ^[5]결핍의 선천적 장애로 나타나는 단백질 글리코실화 경로에 결함을 일으키는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000022711 - 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.
^ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401. S2CID 22959423.
^ ^a ^b "Entrez Gene: PMM2 phosphomannomutase 2".

추가 정보

Matthijs G, Schollen E, Heykants L, Grünewald S (October 1999). "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)". Molecular Genetics and Metabolism. 68 (2): 220–6. doi:10.1006/mgme.1999.2914. PMID 10527672.
Jaeken J, Matthijs G (2002). "Congenital disorders of glycosylation". Annual Review of Genomics and Human Genetics. 2: 129–51. doi:10.1146/annurev.genom.2.1.129. PMID 11701646.
Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J (November 1994). "Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406". Human Molecular Genetics. 3 (11): 2037–42. PMID 7874123.
Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ (February 1997). "PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13". Genomics. 40 (1): 41–7. doi:10.1006/geno.1996.4536. PMID 9070917.
Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G (February 1998). "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene". Human Molecular Genetics. 7 (2): 157–64. doi:10.1093/hmg/7.2.157. PMID 9425221.
Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J (March 1998). "Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A". American Journal of Human Genetics. 62 (3): 542–50. doi:10.1086/301763. PMC 1376957. PMID 9497260.
Kjaergaard S, Skovby F, Schwartz M (1998). "Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1". European Journal of Human Genetics. 6 (4): 331–6. doi:10.1038/sj.ejhg.5200194. PMID 9781039.
Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T (1999). "Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families". European Journal of Human Genetics. 6 (6): 603–11. doi:10.1038/sj.ejhg.5200234. PMID 9887379.
Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y (January 1999). "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1". Clinical Genetics. 55 (1): 50–4. doi:10.1034/j.1399-0004.1999.550109.x. PMID 10066032. S2CID 28135672.
Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N (December 1999). "Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping". Human Mutation. 14 (6): 543–4. doi:10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S. PMID 10571956.
Kjaergaard S, Skovby F, Schwartz M (December 1999). "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli". European Journal of Human Genetics. 7 (8): 884–8. doi:10.1038/sj.ejhg.5200398. PMID 10602363.
Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B (March 2000). "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1". Journal of Inherited Metabolic Disease. 23 (2): 162–74. doi:10.1023/A:1005669900330. PMID 10801058. S2CID 40450186.
Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N (August 2000). "Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients". Journal of Medical Genetics. 37 (8): 579–80. doi:10.1136/jmg.37.8.579. PMC 1734666. PMID 10922383.
Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (November 2000). "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)". Human Mutation. 16 (5): 386–94. doi:10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. PMID 11058895.
Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T (November 2000). "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families". Human Mutation. 16 (5): 395–400. doi:10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T. PMID 11058896.
Westphal V, Enns GM, McCracken MF, Freeze HH (May 2001). "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry". Molecular Genetics and Metabolism. 73 (1): 71–6. doi:10.1006/mgme.2001.3174. PMID 11350185.
Heykants L, Schollen E, Grünewald S, Matthijs G (May 2001). "Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2". Gene. 270 (1–2): 53–9. doi:10.1016/S0378-1119(01)00481-4. PMID 11404002.

외부 링크

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

[refGRCm38Ensembl-1] GRCm38: 앙상블 릴리즈 89: ENSMUSG000022711 - 앙상블, 2017년 5월

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

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

[pmid9140401-4] Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401. S2CID 22959423.

[entrez-5] "Entrez Gene: PMM2 phosphomannomutase 2".

[1]

[2]

[3]

[4]

[5]

v t 이성질화효소: 돌연변이(EC 5.4)
5.4.1 아실기	리솔레시틴아실무타아제 프리코린-8X메틸무타아제
5.4.2 포스포무타아제	포스포글리세린산무타아제 비스포스포글리세린산무타아제 포스포글루코무타아제 포스포만노무타아제 PMM1 PMM2 포스포에놀피루브산염 뮤타아제
5.4.99 기타 그룹	메틸말로닐CoA 뮤타아제 라노스테롤합성효소 루페올합성효소

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PMM2

네임스페이스

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목차

기능.

레퍼런스

추가 정보

외부 링크