Biology:LZTFL1
 Generic protein structure example |
Leucine zipper transcription factor like 1 also known as LZTFL1 is a ubiquitously expressed protein which localizes to the cytoplasm and in humans is encoded by the LZTFL1 gene.[1]
Function
This protein regulates protein trafficking to the ciliary membrane through interaction with the Bardet-Biedl syndrome (BBS) complex of proteins.[2]
Clinical significance
Mutations in the LZTFL1 gene are associated with Bardet-Biedl syndrome,[3] and the gene also acts as a tumor suppressor[4] through regulation of epithelial-mesenchymal transition.[5]
Identified as the gene on chromosome 3 at location 3p21.31 responsible for mediating an associated with genetic susceptibility to SARS-CoV-2 infection[6] and COVID-19 respiratory failure.[7][8] The DNA segment conferring the risk is inherited from Neanderthals.[9]
References
- ↑ "LZTFL1 leucine zipper transcription factor like 1 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=54585.
- ↑ "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened". PLOS Genetics 7 (11): e1002358. November 2011. doi:10.1371/journal.pgen.1002358. PMID 22072986.
- ↑ "Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly". Journal of Medical Genetics 49 (5): 317–321. May 2012. doi:10.1136/jmedgenet-2012-100737. PMID 22510444.
- ↑ "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics 73 (1): 10–19. April 2001. doi:10.1006/geno.2000.6498. PMID 11352561.
- ↑ "Tumor-suppressive functions of leucine zipper transcription factor-like 1". Cancer Research 70 (7): 2942–2950. April 2010. doi:10.1158/0008-5472.CAN-09-3826. PMID 20233871.
- ↑ Niemi, Mari E. K. et al. (July 2021). "Mapping the human genetic architecture of COVID-19". Nature 600 (7889): 472–477. doi:10.1038/s41586-021-03767-x. PMID 34237774.
- ↑ "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". The New England Journal of Medicine 383 (16): 1522–1534. October 2020. doi:10.1056/NEJMoa2020283. PMID 32558485.
- ↑ "Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus" (in en). Nature Genetics 53 (11): 1606–1615. 2021-11-04. doi:10.1038/s41588-021-00955-3. PMID 34737427.
- ↑ Zeberg, Hugo; Pääbo, Svante (30 September 2020). "The major genetic risk factor for severe COVID-19 is inherited from Neanderthals". Nature 587 (7835): 610–612. doi:10.1038/s41586-020-2818-3. PMID 32998156. Bibcode: 2020Natur.587..610Z.
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