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Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in MCPH1 , when homozygous , cause primary microcephaly —a severely diminished brain . [ 5 ] [ 6 ] [ 7 ] Hence, it has been assumed that variants have a role in brain development.
Abnormal spindle-like microcephaly-associated protein, also known as abnormal spindle protein homolog or Asp homolog, is a protein that in humans is encoded by the ASPM gene. [5] ASPM is located on chromosome 1, band q31 (1q31). [6] The ASPM gene contains 28 exons and codes for a 3477 amino-acid-long protein. [6]
Forkhead box protein P2 (FOXP2) is a protein that, in humans, is encoded by the FOXP2 gene. FOXP2 is a member of the forkhead box family of transcription factors , proteins that regulate gene expression by binding to DNA .
WDR53 structure. Zhang Lab, University of Michigan. WD repeat containing protein 53 (WDR53) is a protein encoded by the WDR53 gene that has been identified in the human genome by the Human Genome Project but has, at the moment, lacked experimental procedures to understand the function.
A microprotein (miP) is a small protein encoded from a small open reading frame (sORF) [1], also known as sORF-encoded protein (SEP). They are a class of protein with a single protein domain that are related to multidomain proteins. [2] Microproteins regulate larger multidomain proteins at the post-translational level. [3]
Microtubule plus-end/positive-end tracking proteins or +TIPs are a type of microtubule associated protein (MAP) which accumulate at the plus ends of microtubules. +TIPs are arranged in diverse groups which are classified based on their structural components; however, all classifications are distinguished by their specific accumulation at the plus end of microtubules and their ability to ...
Ribosomal proteins include L36 (rpmJ) and L34 (rpmH), two components of the 50S ribosomal subunit. Toxic proteins, such as ldrD, are toxic at high levels and can kill cells or inhibit growth, which functions to reduce the host cell's viability. [21]
Pikachurin is a dystroglycan-interacting protein which has an essential role in the precise interactions between the photoreceptor ribbon synapse and the bipolar dendrites. [6] The binding with dystroglycan (DG) depends on several factors ( glycosylation of DG, presence of divalent cations, presence of other proteins).