XB-FEAT-6464268: Difference between revisions
imported>Xenbase "ddx3y" |
imported>Xenbase |
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Human name has changed for Entrez Gene: 8653. From DEAD-box helicase 3, Y-linked to DEAD-box helicase 3 Y-linked | Human name has changed for Entrez Gene: 8653. From DEAD-box helicase 3, Y-linked to DEAD-box helicase 3 Y-linked | ||
=summary from NCBI= | |||
In humans, the protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] | |||
Latest revision as of 08:13, 8 May 2018
nomenclature changes
05.08.2018 Human name has changed for Entrez Gene: 8653. From DEAD-box helicase 3, Y-linked to DEAD-box helicase 3 Y-linked
summary from NCBI
In humans, the protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]