Identity
HGNC
LOCATION
16q22.2
LOCUSID
ALIAS
SPGF31,STAP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83449
MIM: 618085
HGNC: 17728
Ensembl: ENSG00000118557
Variants:
dbSNP: 83449
ClinVar: 83449
TCGA: ENSG00000118557
COSMIC: PMFBP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33484382 | 2021 | A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. | 7 |
| 34089195 | 2021 | Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection. | 2 |
| 33484382 | 2021 | A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. | 7 |
| 34089195 | 2021 | Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection. | 2 |
| 32285443 | 2020 | Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa. | 16 |
| 32285443 | 2020 | Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa. | 16 |
| 30298696 | 2019 | Biallelic mutations in PMFBP1 cause acephalic spermatozoa. | 24 |
| 30298696 | 2019 | Biallelic mutations in PMFBP1 cause acephalic spermatozoa. | 24 |
Citation
Dessen P
PMFBP1 (polyamine modulated factor 1 binding protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72015/pmfbp1-(polyamine-modulated-factor-1-binding-protein-1)
