PMFBP1

PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1) is a protein coding gene, which may play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton.

Full Name

polyamine modulated factor 1 binding protein 1

Function

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 (PubMed:30032984).
May also be involved in the general organization of cellular cytoskeleton (By similarity).

Biological Process

SpermatogenesisManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cell projection, cilium, flagellum
Localized at the sperm head-tail connecting piece (PubMed:30032984, PubMed:30298696).
During spermatogenesis, it is first observed in the cytoplasm of round spermatids, it later appears in the implantation fossa region of the sperm nucleus during sperm head elongation and differentiation, and finally it localizes to the head-tail connecting piece (By similarity).

Involvement in disease

Spermatogenic failure 31 (SPGF31):
An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm.