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Rabbit Anti-ECHDC2 antibody
ECHDC2 is a 292 amino acid mitochondrial protein that exists as two isoforms which are produced by alternative splicing events. The gene encoding ECHDC2 maps to chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 encodes a large number of disease-associated proteins, including Lamin A which, when expressed abnormally, can build up in the nucleus and cause nuclear blebs, a characteristic of the rare aging disease Hutchinson-Gilford progeria. Additionally, genes that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinsons Disease, Gaucher disease, schizophrenia and Usher syndrome are all located on chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.
Function:
ECHDC2 belongs to the enoyl-CoA hydratase/isomerase family. There are two named isforms.
Subcellular Location:
Mitochondrion (Potential).
Similarity:
Belongs to the enoyl-CoA hydratase/isomerase family.
SWISS:
Q86YB7
Gene ID:
55268
Database links:
Entrez Gene: 55268 Human
Entrez Gene: 52430 Mouse
Entrez Gene: 298381 Rat
SwissProt: Q86YB7 Human
SwissProt: Q3TLP5 Mouse
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