From UniProt: Stromme syndrome (STROMS): An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases. [MIM:243605]

     From NCBI Gene: This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008] From UniProt: Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia.

The following transcription factors affect gene expression:

• c-Myc

Developmental stage:

Gradually accumulates during the cell cycle, reaching peak levels in G2 and M phase, and is rapidly degraded upon completion of mitosis.

Molecular Function:

• Chromatin Binding
• Protein C-Terminus Binding
• Transcription Factor Binding
• Protein Homodimerization Activity
• Dynein Binding

Biological Processes:

• Mitotic Cell Cycle
• Kidney Development
• Chromosome Segregation
• Sister Chromatid Cohesion
• Mitotic Nuclear Division
• Mitotic Spindle Assembly Checkpoint
• Muscle Organ Development
• Cell Proliferation
• Regulation Of G2/M Transition Of Mitotic Cell Cycle
• Protein Transport
• Regulation Of Striated Muscle Tissue Development
• Ventricular System Development
• Cell Differentiation
• Negative Regulation Of Transcription, Dna-Templated
• Cell Division
• Metaphase Plate Congression
• Kinetochore Assembly
• Regulation Of Cell Cycle
• Dna Biosynthetic Process