PBLD phenazine biosynthesis like protein domain containing
Gene ID: 64081, updated on 2-Nov-2024Gene type: protein coding
Also known as: MAWBP; MAWDBP; HEL-S-306
- See all available tests in GTR for this gene
- Go to complete Gene record for PBLD
- Go to Variation Viewer for PBLD variants
Summary
Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of optic disc parameters. GeneReviews: Not available | |
| Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. GeneReviews: Not available |
Genomic context
- Location:
- 10q21.3
- Sequence:
- Chromosome: 10; NC_000010.11 (68282660..68332928, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PBLD 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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