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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]
Central dogma depicting transcription from DNA code to RNA code to the proteins in the second step covering the production of protein. Protein production is the biotechnological process of generating a specific protein. It is typically achieved by the manipulation of gene expression in an organism such that it expresses large amounts of a ...
This is one of the few known examples of Mendelian (monogenic) inheritance for a disorder affecting speech and language skills, which typically have a complex basis involving multiple genetic risk factors. [70] The FOXP2 gene is located on the long (q) arm of chromosome 7, at position 31.
20501 Ensembl ENSG00000155380 ENSG00000281917 ENSMUSG00000032902 UniProt P53985 Q5T8R3 P53986 RefSeq (mRNA) NM_001166496 NM_003051 NM_009196 RefSeq (protein) NP_001159968 NP_003042 NP_033222 Location (UCSC) Chr 1: 112.91 – 112.96 Mb Chr 3: 104.55 – 104.57 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Monocarboxylate transporter 1 is a ubiquitous protein that in humans is ...
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 ...
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. [5] [6] It is a large, extracellular matrix glycoprotein that serves as a structural component of 10–12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue ...
Beclin-1 is a protein that in humans is encoded by the BECN1 gene. [5] [6] Beclin-1 is a mammalian ortholog of the yeast autophagy-related gene 6 (Atg6) and BEC-1 in the C. elegans nematode. [7] This protein interacts with either BCL-2 or PI3k class III, playing a critical role in the regulation of both autophagy and cell death.