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PMM2 information


PMM2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
External IDsOMIM: 601785 MGI: 1859214 HomoloGene: 257 GeneCards: PMM2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000303

NM_016881
NM_001362485

RefSeq (protein)

NP_000294

NP_058577
NP_001349414

Location (UCSC)n/aChr 16: 8.46 – 8.48 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.[4][5]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022711 – Ensembl, May 2017
  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.
  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.
  5. ^ "Entrez Gene: PMM2 phosphomannomutase 2".

and 15 Related for: PMM2 information

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PMM2

Last Update:

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to...

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PMM2 deficiency

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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that...

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Orthorhombic crystal system

Last Update:

25–46 Rhombic pyramidal C2v mm2 *22 [2] Polar Hemimorphite, bertrandite Pmm2, Pmc21, Pcc2, Pma2, Pca21, Pnc2, Pmn21, Pba2, Pna21, Pnn2 Cmm2, Cmc21, Ccc2...

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Layer group

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17 p21/b11 18 c2/m11 Orthorhombic 19 p222 20 p2122 21 p21212 22 c222 23 pmm2 24 pma2 25 pba2 26 cmm2 27 pm2m 28 pm21b 29 pb21m 30 pb2b 31 pm2a 32 pm21n...

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List of space groups

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1 ) {\displaystyle (2_{0}{*}2_{1}2_{1})} 25 mm2 ∗ 22 {\displaystyle *22} Pmm2 P m m 2 Γ o C 2 v 1 {\displaystyle \Gamma _{o}C_{2v}^{1}} 13s ( c : a : b...

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Space group

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P21212, P212121, C2221, C222, F222, I222, I212121 25–46 mm2 C2v *22 [2] 4 Pmm2, Pmc21, Pcc2, Pma2, Pca21, Pnc2, Pmn21, Pba2, Pna21, Pnn2 Cmm2, Cmc21, Ccc2...

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Polonium dichloride

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appears to crystallise with an orthorhombic unit cell in either the P222, Pmm2 or Pmmm space group, although this is likely a pseudo-cell. Alternatively...

Word Count : 279

Dyscrasite

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Orthorhombic Crystal class Pyramidal (mm2) H-M symbol: (mm2) Space group Pmm2 Unit cell a = 3.008, b = 4.828 c = 5.214 [Å]; Z = 1 Identification Color...

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Rod group

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p112 9 p1121 10 p11m 11 p112/m 12 p1121/m Orthorhombic 13 p222 14 p2221 15 pmm2 16 pcc2 17 pmc21 18 p2mm 19 p2cm 20 pmmm 21 pccm 22 pmcm Tetragonal 23 p4...

Word Count : 192

Polychromatic symmetry

Last Update:

2 1 2 1 2 1 2 1 2 p112 2 1 2 1 2 1 2 1 2 1 2 pma2 3 1 3 1 3 1 3 1 3 1 3 pmm2 5 1 7 1 5 1 7 1 5 1 7       Total strip groups 17    7 19    7 17    7 19...

Word Count : 1615

Disiloxane

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Dipole moment 0.24 D Structure Crystal structure Orthorhombic Space group Pmm2 Molecular shape Bent Hazards NFPA 704 (fire diamond) 2 4 1 Related compounds...

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Polistes major major

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the red-bellied woodpecker (Melanerpes carolinus). Three peptides, PMM1, PMM2, and PMM3 have been extracted and identified from the venom of Polistes major...

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Mathematics and art

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pmm, while the border may be laid out as a frieze of frieze group pm11, pmm2 or pma2. Turkish and Central Asian kilims often have three or more borders...

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Coxeter notation

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group [∞,2,∞,2,∞]+ (16) P222 [[∞,2,∞,2,∞]]+ (23) I222 [∞+,2,∞,2,∞] (25) Pmm2 [∞,2,∞,2,∞] (47) Pmmm [[∞,2,∞,2,∞]] (71) Immm [∞+,2,∞+,2,∞+] [∞,2,∞,2+,∞]...

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List of OMIM disorder codes

Last Update:

neuropathy; 604168; CTDP1 Congenital disorder of glycosylation, type Ia; 212065; PMM2 Congenital disorder of glycosylation, type Ic; 603147; ALG6 Congenital disorder...

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