WDR66 gene

WD repeat domain 66

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

From UniProt:

Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).

From NCBI Gene:

  • SPERMATOGENIC FAILURE 33

From UniProt:

Spermatogenic failure 33 (SPGF33): An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella. [MIM:618152]

Cytogenetic Location: 12q24.31, which is the long (q) arm of chromosome 12 at position 24.31

Molecular Location: base pairs 121,918,557 to 122,003,927 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 12q24.31, which is the long (q) arm of chromosome 12 at position 24.31
  • CaM-IP4
  • CFAP251
  • SPGF33