XB-FEAT-5871696: Difference between revisions
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= | =''c1h9orf72''= | ||
This is the community wiki page for the gene '' | This is the community wiki page for the gene ''c1h9orf72''. Feel free to add any information here that is relevant to this gene that is not already captured elsewhere on Xenbase. | ||
=nomenclature changes= | =nomenclature changes= | ||
01.04.2021 | 01.04.2021 | ||
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=summary for human C90rf72 from NCBI= | =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] | 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] | ||
= nomenclature changes = | |||
20JAN2023 | |||
HGNC and NCBIs RefSeq team have recently renamed all ORF genes. The new gene symbols reflect the orthology to the human gene, while starting with a prefix indicating location of the ORF on the ''Xenopus'' chromosomes (c#), the 'h#' for the human chromosome then the orf #. (e.g., gene symbol ''C9orf72 '' changed to ''c1h9orf72''). Old 'orf' gene symbols are recorded as synonyms. | |||
20JAN2023 | |||
''Xenopus'' gene name changed from ''C9orf72-SMCR8 complex subunit'' to ''chromosome 1 C9orf72 homolog '' | |||
Latest revision as of 10:19, 25 May 2023
c1h9orf72
This is the community wiki page for the gene c1h9orf72. Feel free to add any information here that is relevant to this gene that is not already captured elsewhere on 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]
nomenclature changes
20JAN2023
HGNC and NCBIs RefSeq team have recently renamed all ORF genes. The new gene symbols reflect the orthology to the human gene, while starting with a prefix indicating location of the ORF on the Xenopus chromosomes (c#), the 'h#' for the human chromosome then the orf #. (e.g., gene symbol C9orf72 changed to c1h9orf72). Old 'orf' gene symbols are recorded as synonyms.
20JAN2023
Xenopus gene name changed from C9orf72-SMCR8 complex subunit to chromosome 1 C9orf72 homolog