CHKB

3FEG, 2IG7, 3LQ3

CHKB
CHKB
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauCHKB, CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC, choline kinase beta
Dynodwyr allanolOMIM: 612395 HomoloGene: 88718 GeneCards: CHKB
EC number2.7.1.82 2.7.1.32, 2.7.1.82
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

1120

n/a

Ensembl

ENSG00000100288

n/a

UniProt

Q9Y259

n/a

RefSeq (mRNA)

NM_152253
NM_005198

n/a

RefSeq (protein)

NP_005189

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 CHKB yw CHKB a elwir hefyd yn Choline kinase beta (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 22, band 22q13.33.[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 CHKB.

  • CK
  • EK
  • CKB
  • EKB
  • CHKL
  • CHETK
  • CKEKB
  • MDCMC

Llyfryddiaeth

  • "Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. ". Biomed Res Int. 2016. PMID 27123443.
  • "Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. ". J Inherit Metab Dis. 2015. PMID 26067811.
  • "New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. ". J Hum Genet. 2015. PMID 25740612.
  • "[New congenital muscular dystrophy due to CHKB mutations]. ". Rinsho Shinkeigaku. 2013. PMID 24291895.
  • "Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.". Curr Opin Neurol. 2013. PMID 23945283.

Cyfeiriadau

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

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