PMP2

2WUT, 3NR3, 4A1H, 4A1Y, 4A8Z, 4BVM, 4D6A, 4D6B

PMP2
PMP2
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauPMP2, FABP8, M-FABP, MP2, P2, peripheral myelin protein 2, Myelin P2 protein, CMT1G
Dynodwyr allanolOMIM: 170715 HomoloGene: 20589 GeneCards: PMP2
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

5375

n/a

Ensembl

ENSG00000147588

n/a

UniProt

P02689

n/a

RefSeq (mRNA)

NM_002677
NM_001348381

n/a

RefSeq (protein)

NP_002668
NP_001335310

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 PMP2 yw PMP2 a elwir hefyd yn Peripheral myelin protein 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 8, band 8q21.13.[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 PMP2.

  • P2
  • MP2
  • FABP8
  • M-FABP

Llyfryddiaeth

  • "Atomic resolution view into the structure-function relationships of the human myelin peripheral membrane protein P2. ". Acta Crystallogr D Biol Crystallogr. 2014. PMID 24419389.
  • "Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2). ". Hum Mutat. 2001. PMID 11241848.
  • "De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. ". Brain. 2016. PMID 27009151.
  • "A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. ". PLoS Genet. 2016. PMID 26828946.
  • "Production, crystallization and neutron diffraction of fully deuterated human myelin peripheral membrane protein P2.". Acta Crystallogr F Struct Biol Commun. 2015. PMID 26527266.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ PMP2 - Cronfa NCBI

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