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Chromosome 12. SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter. [8] Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids.
35 11409 Ensembl ENSG00000122971 ENSMUSG00000029545 UniProt P16219 Q07417 RefSeq (mRNA) NM_001302554 NM_000017 NM_007383 RefSeq (protein) NP_000008 NP_001289483 NP_001289483.1 NP_031409 Location (UCSC) Chr 12: 120.73 – 120.74 Mb Chr 5: 115.25 – 115.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Acyl-CoA dehydrogenase, C-2 to C-3 short chain is an enzyme that in humans is ...
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA ) and represents between 4 and 4.5 percent of the total DNA in cells .
Human chromosome 12 gene stubs (406 P) Pages in category "Genes on human chromosome 12" The following 200 pages are in this category, out of approximately 726 total.
PKS is caused by an sSMC that consists of two copies or, less commonly, four copies of the genetic material in the p arm of chromosome 12. [1] [3] Recent studies in two individuals with PKS found their sSMCs consisted specifically of genetic material located in a stretch of chromosome 12 's p arm starting at its band 11 and running to its end.
A small supernumerary marker chromosome (sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed.
The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is 12p13.2. The gene has 8 exons and two start codons, one located at exon 1 at the start of the gene and an alternative located upstream of exon 3.
The list of organisms by chromosome count describes ploidy or numbers of chromosomes in the cells of various plants, animals, protists, and other living organisms.This number, along with the visual appearance of the chromosome, is known as the karyotype, [1] [2] [3] and can be found by looking at the chromosomes through a microscope.