CDH23

CDH23
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2KBR, 2KBS, 2LSR
Dynodwyr
Cyfenwau	CDH23, CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
Dynodwyr allanol	OMIM: 605516 HomoloGene: 11142 GeneCards: CDH23
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • metal ion binding • calcium ion binding • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • Cellbilen • bilen • stereocilium • integral component of membrane Prosesau biolegol • equilibrioception • calcium ion transport • homophilic cell adhesion via plasma membrane adhesion molecules • photoreceptor cell maintenance • inner ear receptor cell stereocilium organization • locomotory behavior • golwg • sensory perception of light stimulus • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules • response to stimulus • regulation of cytosolic calcium ion concentration • cell adhesion • sensory perception of sound Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	64072	n/a
Ensembl	ENSG00000107736	n/a
UniProt	Q9H251 Q6P152	n/a
RefSeq (mRNA)	NM_001171930 NM_001171931 NM_001171932 NM_001171933 NM_001171934 NM_001171935 NM_001171936 NM_022124 NM_052836	n/a
RefSeq (protein)	NP_001165401 NP_001165402 NP_001165403 NP_001165404 NP_001165405 NP_001165406 NP_001165407 NP_071407 NP_443068 NP_001165401.1 NP_071407.4	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 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.

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 CDH23.

• PITA5
• USH1D
• CDHR23

Llyfryddiaeth

• "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.