PMFBP1 polyamine modulated factor 1 binding protein 1
Gene ID: 83449, updated on 14-Nov-2024Gene type: protein coding
Also known as: STAP; SPGF31
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- Go to complete Gene record for PMFBP1
- Go to Variation Viewer for PMFBP1 variants
Summary
Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Spermatogenic failure 31 | See labs |
Genomic context
- Location:
- 16q22.2
- Sequence:
- Chromosome: 16; NC_000016.10 (72116657..72249949, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PMFBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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