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Rabbit Anti-CHCHD7 antibody
CHCHD7 is an 85 amino acid protein that contains one CHCH domain. A chromosomal translocation involving the CHCHD7 gene and PLAG1 gene is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. There are three isoforms of CHCHD7 that are produced as a result of alternative splicing events. The gene encoding CHCHD7 maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects.
Subunit:
Monomer.
Subcellular Location:
Mitochondrion intermembrane space
DISEASE:
Note=A chromosomal aberration involving CHCHD7 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(6;8)(p21.3-22;q13) with PLAG1.
Similarity:
Belongs to the CHCHD7 family.
Contains 1 CHCH domain.
SWISS:
Q9BUK0
Gene ID:
79145
Database links:
Entrez Gene: 79145 Human
Omim: 611238 Human
SwissProt: Q9BUK0 Human
Unigene: 436913 Human
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