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]

AliasesLZTFL1, BBS17, leucine zipper transcription factor like 1
End45,916,042 bp[1]
Quick facts Identifiers, Aliases ...
LZTFL1
Identifiers
AliasesLZTFL1, BBS17, leucine zipper transcription factor like 1
External IDsOMIM: 606568; MGI: 1934860; HomoloGene: 41368; GeneCards: LZTFL1; OMA:LZTFL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001276378
NM_001276379
NM_020347
NM_001386451
NM_001386452

NM_033322

RefSeq (protein)

NP_001263307
NP_001263308
NP_065080

NP_201579

Location (UCSC)Chr 3: 45.82 – 45.92 MbChr 9: 123.52 – 123.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

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]

References

Related Articles

Wikiwand AI