Polyamine-modulated factor 1-binding protein 1 (PMFBP1)

Polyamine-modulated factor 1-binding protein 1 (PMFBP1) is a protein encoded by the PMFBP1 gene in humans. It localizes to the sperm head-tail coupling apparatus and acts as a scaffold, attaching the sperm tail connecting piece to the nuclear envelope to maintain sperm head and tail integrity. Mutations in PMFBP1 (including frameshift, splice donor, and nonsense mutations) result in structural defects in sperm, such as acephalic spermatozoa syndrome—characterized by separation or malformation of sperm heads and tails—and are associated with autosomal recessive inheritance of male infertility. The protein is highly expressed in testis and epididymis. PMFBP1 does not belong to any druggable molecular class or disease-relevant signaling pathway such as receptors, enzymes, or ion channels.

Other names

Polyamine-modulated factor 1-binding protein 1PMFBP1PMF-1-binding proteinSPGF31STAPPMF-1 binding protein