PMM2

2AMY, 2Q4R

PMM2
PMM2
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauPMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
Dynodwyr allanolOMIM: 601785 HomoloGene: 257 GeneCards: PMM2
EC number5.4.2.8
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

5373

n/a

Ensembl

n/a

n/a

UniProt

O15305

n/a

RefSeq (mRNA)

NM_000303

n/a

RefSeq (protein)

NP_000294

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PMM2 yw PMM2 a elwir hefyd yn Phosphomannomutase 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 16, band 16p13.2.[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PMM2.

  • PMI
  • CDG1
  • CDGS
  • PMI1
  • CDG1a
  • PMM*2

Llyfryddiaeth

  • "The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. ". Hum Mutat. 2015. PMID 26014514.
  • "A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. ". J Neurol. 2015. PMID 25355454.
  • "Three families with mild PMM2-CDG and normal cognitive development. ". Am J Med Genet A. 2017. PMID 28425223.
  • "Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ". J Am Soc Nephrol. 2017. PMID 28373276.
  • "Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.". PLoS One. 2015. PMID 26488408.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ PMM2 - Cronfa NCBI

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