background:
TMEM74 is a 305 amino acid protein encoded by a gene mapping to human chromosome 8. Made up of nearly 146 million bases, chromosome 8 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. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
Function:
Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction.
Subcellular Location:
Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein.
Tissue Specificity:
Expressed in heart, lung, and placenta.
Similarity:
Belongs to the TMEM74 family.
Database links:
Entrez Gene: 157753 Human
Entrez Gene: 239408 Mouse
Entrez Gene: 500864 Rat
SwissProt: Q96NL1 Human
SwissProt: Q8BQU7 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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