PLP1

PLP1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2XPG
Dynodwyr
Cyfenwau	PLP1, GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, proteolipid protein 1
Dynodwyr allanol	OMIM: 300401 HomoloGene: 448 GeneCards: PLP1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • structural constituent of myelin sheath • structural molecule activity • identical protein binding Cydrannau o'r gell • integral component of membrane • myelin sheath • Cellbilen • bilen Prosesau biolegol • axon ensheathment • integrin-mediated signaling pathway • astrocyte development • myelination • axon development • GO:1901313 positive regulation of gene expression • inflammatory response • glial cell differentiation • cell maturation • long-chain fatty acid biosynthetic process • substantia nigra development • central nervous system myelination • chemical synaptic transmission • neuron projection development Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5354	n/a
Ensembl	ENSG00000123560	n/a
UniProt	P60201	n/a
RefSeq (mRNA)	NM_199478 NM_000533 NM_001128834 NM_001305004	n/a
RefSeq (protein)	NP_000524 NP_001122306 NP_001291933 NP_955772	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PLP1 yw PLP1 a elwir hefyd yn Proteolipid protein 1 a Myelin proteolipid protein (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 X dynol, band Xq22.2.

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 PLP1.

• PLP
• PMD
• HLD1
• MMPL
• SPG2
• GPM6C
• PLP/DM20

Llyfryddiaeth

• "Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders. ". ASN Neuro. 2017. PMID 28735559.
• "Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. ". Am J Hum Genet. 2017. PMID 28366443.
• "Association of New Putative Epitopes of Myelin Proteolipid Protein (58-74) with Pathogenesis of Multiple Sclerosis. ". Iran J Allergy Asthma Immunol. 2016. PMID 27917626.
• "A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding. ". Brain Dev. 2017. PMID 27793435.
• "Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.". BMC Med Genet. 2015. PMID 26329556.