PAXBP1 PAX3 and PAX7 binding protein 1
Gene ID: 94104, updated on 27-Aug-2024Gene type: protein coding
Also known as: GCFC; BM020; GCFC1; FSAP105; C21orf66
- See all available tests in GTR for this gene
- Go to complete Gene record for PAXBP1
- Go to Variation Viewer for PAXBP1 variants
Summary
Predicted to enable DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of histone methylation; positive regulation of myoblast proliferation; and regulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Genomic context
- Location:
- 21q22.11
- Sequence:
- Chromosome: 21; NC_000021.9 (32733899..32771755, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAXBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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