reticulophagy regulator 1
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A RETREG1 gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle worn-out or unnecessary cell parts and break down certain proteins when they are no longer needed. In particular, the RETREG1 protein helps direct autophagy of a cell structure called the endoplasmic reticulum, which is important in protein processing and transport. Autophagy may be a way for the cell to remove parts of the endoplasmic reticulum when they are no longer needed or to break down excess or abnormal proteins that are being processed within the structure.
Normal function
A RETREG1 gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle worn-out or unnecessary cell parts and break down certain proteins when they are no longer needed. In particular, the RETREG1 protein helps direct autophagy of a cell structure called the endoplasmic reticulum, which is important in protein processing and transport. Autophagy may be a way for the cell to remove parts of the endoplasmic reticulum when they are no longer needed or to break down excess or abnormal proteins that are being processed within the structure.
The RETREG1 protein also appears to be important in the organisation of another cell structure called the Golgi apparatus, which is important for distribution of proteins within the cell.
The RETREG1 protein is found in sensory and autonomic nerve cells (neurons). Sensory neurons transmit pain, touch, and temperature sensations. Autonomic neurons help control involuntary functions of the body such as heart rate and blood pressure.
Conditions referring to this gene or chromosome
Other names
F134B_HUMAN
FAM134B
FAM134B protein
FAM134B protein isoform 1
FAM134B protein isoform 2
family with sequence similarity 134 member B
family with sequence similarity 134, member B
FLJ20152
FLJ22155
FLJ22179
JK1
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Leitura adicional e referências
- reticulophagy regulator 1; MedlinePlus, National Library of Medicine.
- Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Akutsu M, Liebmann L, Stolz A, Nietzsche S, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F, Kurth I, Hubner CA, Dikic I. Regulation of endoplasmic reticulum turnover by selective autophagy. Nature. 2015 Jun 18;522(7556):354-8. doi: 10.1038/nature14498. Epub 2015 Jun 3.
- Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.
- Mochida K, Oikawa Y, Kimura Y, Kirisako H, Hirano H, Ohsumi Y, Nakatogawa H. Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus. Nature. 2015 Jun 18;522(7556):359-62. doi: 10.1038/nature14506. Epub 2015 Jun 3.
- Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28.
- Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006 Feb;21(2):247-55. doi: 10.1016/j.nbd.2005.08.004. Epub 2005 Sep 23.
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