CDH23

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CDH23
Protein CDH23 PDB 2KBR.png
Strwythurau
PDBOrthologau:PDBe RCSB
Dynodwyr
CyfenwauCDH23, CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
Dynodwyr allanolMGI: 1890219 HomoloGene: 11142 GeneCards: CDH23
Patrwm RNA pattern
PBB GE CDH23 gnf1h00396 at fs.png

PBB GE CDH23 gnf1h08187 s at fs.png

PBB GE CDH23 gnf1h01163 s at fs.png
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252635
NM_023370

RefSeq (protein)

NP_001239564
NP_075859

Lleoliad (UCSC)n/aChr : 60.3 – 60.7 Mb
PubMed search[2][3]
Wicidata
Gweld/Golygu Bod dynolGweld/Golygu Llygoden

Protein sy'n cael ei godio yn y corff dynol gan y genyn CDH23 yw CDH23 a elwir hefyd yn Cadherin related 23 (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 10, band 10q22.1.[4]

Cyfystyron[golygu | golygu cod y dudalen]

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 CDH23.

  • PITA5
  • USH1D
  • CDHR23

Llyfryddiaeth[golygu | golygu cod y dudalen]

  • "Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. ". J Transl Med. 2015. PMID 26264712.
  • "High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. ". Orphanet J Rare Dis. 2015. PMID 25963016.
  • "Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. ". Am J Hum Genet. 2017. PMID 28413019.
  • "Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans. ". PLoS One. 2016. PMID 27792758.
  • "Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.". Ophthalmic Surg Lasers Imaging Retina. 2016. PMID 26878454.

Cyfeiriadau[golygu | golygu cod y dudalen]