LZTFL1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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.[5]
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| Aliases | LZTFL1, BBS17, leucine zipper transcription factor like 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606568; MGI: 1934860; HomoloGene: 41368; GeneCards: LZTFL1; OMA:LZTFL1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This protein regulates protein trafficking to the ciliary membrane through interaction with the Bardet-Biedl syndrome (BBS) complex of proteins.[6]
Clinical significance
Mutations in the LZTFL1 gene are associated with Bardet-Biedl syndrome,[7] and the gene also acts as a tumor suppressor[8] through regulation of epithelial-mesenchymal transition.[9]
Identified as the gene on chromosome 3 at location 3p21.31 responsible for mediating an associated with genetic susceptibility to SARS-CoV-2 infection[10] and COVID-19 respiratory failure.[11][12] The DNA segment conferring the risk is inherited from Neanderthals.[13]