PQBP1
Aliases:
This biomarker is also known as:- SHS
- polyglutamine-binding protein 1
- Polyglutamine tract-binding protein 1
- polyglutamine binding protein 1
- nuclear protein containing WW domain 38 kD
- MRXS3
- 38 kDa nuclear protein containing a WW domain
- polyglutamine tract-binding protein 1
- mental retardation, X-linked 55
- RENS1
- NPW38
- Sutherland-Haan X-linked mental retardation syndrome
- MRX55
- PQBP1
- MRXS8
- PQBP-1
- Npw38
Description…
From NCBI Gene: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Datasets
There are no datasets associated with this biomarker.
Attributes
| QA State: | Curated |
|---|---|
| Type: | Gene |
| HGNC Name: | PQBP1 |
The following organs have data associated with this biomarker…
Attributes
| Phase: | 1 |
|---|---|
| QA State: | Curated |
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.
- History and molecular genetics of Lynch syndrome in family G: a century later.
- Differential diagnosis of a pelvic mass: improved algorithms and novel biomarkers.
- Targeting human 8-oxoguanine DNA glycosylase to mitochondria protects cells from 2-methoxyestradiol-induced-mitochondria-dependent apoptosis.