Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.
Function:
Scc4 (Mau2) is the metazoan homologue of Scc4 in S. cerevisiae. In yeast, Scc4 binds to Scc2 to form an essential complex that loads cohesion onto chromosomes. Similarly, the Scc4 / Mau2 protein in metazoans plays a significant role in sister chromatid separation and in loading of cohesin onto chromatin. The Scc2-Scc4 complex is tethered to pre-replication complexes through the Cdc7-Drf1 protein kinase DDK.
Subunit:
Interacts (via N-terminus) with NIPBL to form the cohesion loading complex.
Subcellular Location:
Nucleus, nucleoplasm. Note=Binds to chromatin from the end of mitosis until prophase.
Similarity:
Belongs to the SCC4/mau-2 family.
Contains 4 TPR repeats.
SWISS:
Q9Y6X3
Gene ID:
23383
Database links:
Entrez Gene: 23383 Human
Entrez Gene: 74549 Mouse
Omim: 614560 Human
SwissProt: Q9Y6X3 Human
SwissProt: Q9D2X5 Mouse
SwissProt: B4ZIX8 Xenopus laevis
Unigene: 654939 Human
Unigene: 269061 Mouse
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