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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]
Cell-free production of proteins is performed in vitro using purified RNA polymerase, ribosomes, tRNA and ribonucleotides. These reagents may be produced by extraction from cells or from a cell-based expression system. Due to the low expression levels and high cost of cell-free systems, cell-based systems are more widely used. [29]
FBN1 is a gene approximately 200kb and is made up of a large coding sequence divided into 65 exons located on chromosome 15. This gene encodes for Fibrillin-1 protein. [17] Fibrillin-1 is a large cysteine rich-glycoprotein approximately 350 kDa mainly composed of tandemly repeating domains of epidermal growth factor (EGF)-like modules.
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. It is expressed in the brain, heart, lungs and digestive system. [5] [6]
Instead, short fragments have been produced recombinantly and their structures solved by X-ray crystallography or using NMR spectroscopy. A recent example is the structure of the fibrillin-1 hybrid2 domain, in context of its flanking calcium binding epidermal growth factor domains, which was determined using X-ray crystallography to a ...
Chordin is a 941 amino-acids long protein, whose three-dimensional transmission electron microscopy structure resembles a horseshoe. [5] [6] A characteristic structural feature of chordin is the presence of four cysteine-rich repeats, which are 58–75 residues long, each containing 10 cysteines with characteristic spacings.
In the human genome, CCL2 and many other CC chemokines are located on chromosome 17 (17q11.2-q21.1). [8] The gene span is 1,927 bases and the CCL2 gene resides on the Watson (plus) strand. The CCL2 gene has three exons and two introns. The CCL2 protein precursor contains a signal peptide of 23 amino acids. In turn, the mature CCL2 is 76 amino ...