TMEM77 (transmembrane protein 77) is a 266 amino acid protein encoded by a gene mapping to human chromosome 1. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
Function:
Induces apoptotic cell death when co-expressed with DRAM1.
Subcellular Location:
Lysosome membrane.
Tissue Specificity:
Expression is down-regulated in ovarian tumors (at protein level). Widely expressed with highest levels in placenta and heart. Not detected in brain or thymus.
Similarity:
Belongs to the DRAM/TMEM150 family.
SWISS:
Q6UX65
Gene ID:
128338
Database links:
Entrez Gene: 128338 Human
Omim: 61372 Human
SwissProt: Q6UX65 Human
Unigene: 485606 Human
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