background:
TMEM166, also known as FAM176A (family with sequence similarity 176, member A), is a 152 amino acid protein encoded by a gene mapping to human chromosome 2. The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr鰉 syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Function:
Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis.
Subcellular Location:
Endoplasmic reticulum membrane; Single-pass membrane protein. Lysosome membrane; Single-pass membrane protein.
Tissue Specificity:
Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle.
Similarity:
Belongs to the EVA1 family.
Database links:
UniProtKB/Swiss-Prot: Q9H8M9.1
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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