XB-FEAT-6468311: Difference between revisions

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Created page with "=nomenclature changes= 05.13.19 Human name has changed for Entrez Gene: 55695. From NOP2/Sun RNA methyltransferase family member 5 to NOP2/Sun RNA methyltransferase 5"
 
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Human name has changed for Entrez Gene: 55695. From NOP2/Sun RNA methyltransferase family member 5 to NOP2/Sun RNA methyltransferase 5
Human name has changed for Entrez Gene: 55695. From NOP2/Sun RNA methyltransferase family member 5 to NOP2/Sun RNA methyltransferase 5
=Summary from NCBI,  Human NSUN5=
This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Latest revision as of 07:27, 14 May 2019

nomenclature changes

05.13.19

Human name has changed for Entrez Gene: 55695. From NOP2/Sun RNA methyltransferase family member 5 to NOP2/Sun RNA methyltransferase 5

Summary from NCBI, Human NSUN5

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]