LDB3 |
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Dynodwyr |
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Cyfenwau | LDB3, CMD1C, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP, CMH24, LIM domain binding 3 |
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Dynodwyr allanol | OMIM: 605906 HomoloGene: 134626 GeneCards: LDB3 |
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Orthologau |
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Species | Bod dynol | Llygoden |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Lleoliad (UCSC) | n/a | n/a |
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PubMed search | [1] | n/a |
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Wicidata |
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Protein sy'n cael ei godio yn y corff dynol gan y genyn LDB3 yw LDB3 a elwir hefyd yn LIM domain binding 3 (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 10q23.2.[2]
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 LDB3.
- MFM4
- ZASP
- CMD1C
- CMH24
- CMPD3
- LVNC3
- CYPHER
- LDB3Z1
- LDB3Z4
- ORACLE
- PDLIM6
- "Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. ". Am J Med Genet A. 2007. PMID 17394203.
- "Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations. ". Exp Cell Res. 2006. PMID 16476425.
- "A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy. ". Clin Genet. 2015. PMID 25041374.
- "Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked β-N-acetylglucosamine-substituted protein in human heart myofibrils. ". J Biol Chem. 2013. PMID 23271734.
- "Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction.". Circ Arrhythm Electrophysiol. 2012. PMID 22929165.