XB-FEAT-5871696: Difference between revisions
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=c9orf72= | =c9orf72= | ||
This is the community wiki page for the gene ''c9orf72'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''c9orf72'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=nomenclature changes= | |||
01.04.2021 | |||
Following update to the human gene name, the gene name has changed from ''chromosome 9 open reading frame 72'' to ''C9orf72-SMCR8 complex subunit'' | |||
=summary for human C90rf72 from NCBI= | |||
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016] | |||
Revision as of 11:07, 5 January 2021
c9orf72
This is the community wiki page for the gene c9orf72 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
01.04.2021 Following update to the human gene name, the gene name has changed from chromosome 9 open reading frame 72 to C9orf72-SMCR8 complex subunit
summary for human C90rf72 from NCBI
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]