DISEASES

Disease-gene associations mined from literature

Literature associating PMFBP1 and spermatogenic failure 16

PMFBP1 [ENSP00000237353]

Polyamine-modulated factor 1-binding protein 1; Required for normal spermatogenesis (PubMed:1770140, PubMed:30032984, PubMed:30298696). It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity . May also be involved in the general organization of cellular cytoskeleton (By similarity). ECO:0000269|PubMed:1770140, ECO:0000269|PubMed:30032984,

Synonyms:  PMFBP1,  PMFBP1p,  hPMFBP1,  F5GXW3,  F5GYR2 ...

Linkouts:  STRING  Pharos  UniProt