TTDN1 Blocking Peptide | MPLKIP blocking peptide
TTDN1 Antibody (C-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]
Uniprot Description
TTDN1: May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis. Defects in MPLKIP are a cause of trichothiodystrophy non- photosensitive type 1 (TTDN1); also known as Amish brittle hair brain syndrome (ABHS), hair-brain syndrome and BIDS syndrome. TTDN1 is an autosomal recessive disorder characterized by short stature, intellectual impairment, sulfur-deficient brittle hair and decreased male fertility but not cutaneous photosensitivity.
Protein type: Cell cycle regulation
Chromosomal Location of Human Ortholog: 7p14.1
Cellular Component: centrosome; cytoplasm; Golgi apparatus; midbody; nucleoplasm; nucleus
Molecular Function: protein binding
Disease: Trichothiodystrophy, Nonphotosensitive 1