LP193280-7
C9orf72 gene.GGGGCC repeats
Active
Description
The C9orf72 gene (chromosome 9 open reading frame 72) [HGNC Gene ID: 28337] is located on chromosome 9p21.2. 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 hexanucleotide repeat in non-coding 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 PMID: 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, Feb 2015][NCBI Gene ID: 203228] Source: National Center for Biotechnology Information (NCBI) Books
Basic Part Properties
- Part Name
- C9orf72 gene.GGGGCC repeats
- Part Display Name
- C9orf72 gene GGGGCC repeats
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-06-04
- Construct for LOINC Short Name
- C9orf72 GGGGCC Rpt
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | C9orf72 基因.GGGGCC 重复序列 |
| es-ES | Spanish (Spain) | Gen C9orf72 repeticiones GGGGCC |
| it-IT | Italian (Italy) | C9orf72, gene.ripetizioni GGGGCC Synonyms: Ripetizioni GGGGCC di gene C9orf72 |
| tr-TR | Turkish (Turkey) | C9orf72 geni.GGGGCC tekrarları |
| nl-NL | Dutch (Netherlands) | c9off72-gen.GGGGCC repeats Synonyms: c9off72 gen.GGGGCC repeats |
| fr-FR | French (France) | C9orf72 gène répétition GGGGCC |
| pl-PL | Polish (Poland) | C9orf72 gen.GGGGCC powtórzenia Synonyms: Powtórzenia GGGGCC w genie C9orf72 |
| el-GR | Greek (Greece) | Γονίδιο C9orf72.επαναλήψεις GGGGCC Synonyms: Γονίδιο C9orf72.επαναλήψεις GGGGCC |
LOINC Copyright
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