LP33175-8
PABPN1 gene
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Description
The PABPN1 gene (poly(A) binding protein, nuclear 1) [HGNC Gene ID:8565] is located on chromosome 14q11.2. This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010] [NCBI Gene ID:8106] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- PABPN1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-13
- Construct for LOINC Short Name
- PABPN1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PABPN1 基因 Synonyms: OPMD; |
| et-EE | Estonian (Estonia) | PABPN1 geen |
| es-ES | Spanish (Spain) | Gen PABPN1 |
| it-IT | Italian (Italy) | PABPN1, gene Synonyms: Gene PABPN1 |
| tr-TR | Turkish (Turkey) | PABPN1 geni |
| ru-RU | Russian (Russian Federation) | PABPN1 ген |
| nl-NL | Dutch (Netherlands) | PABPN1-gen Synonyms: PABPN1 gen |
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