SACS

1IUR, 3O10

SACS
SACS
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauSACS, ARDNAJC29, PPP1R138, SPAX6, sacsin molecular chaperone
Dynodwyr allanolOMIM: 604490 HomoloGene: 8653 GeneCards: SACS
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

26278

n/a

Ensembl

ENSG00000151835

n/a

UniProt

Q9NZJ4

n/a

RefSeq (mRNA)

NM_001278055
NM_014363
NM_152752

n/a

RefSeq (protein)

NP_001264984
NP_055178

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 SACS yw SACS a elwir hefyd yn Sacsin molecular chaperone (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 13, band 13q12.12.[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 SACS.

  • SPAX6
  • ARSACS
  • DNAJC29
  • PPP1R138

Llyfryddiaeth

  • "Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes. ". Br J Ophthalmol. 2014. PMID 24457356.
  • "Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization. ". J Neurogenet. 2013. PMID 24180463.
  • "A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ". Cytogenet Genome Res. 2017. PMID 28658676.
  • "High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. ". PLoS One. 2015. PMID 26366743.
  • "New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.". Ann Neurol. 2015. PMID 26288984.

Cyfeiriadau

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

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