LZTFL1

Name

leucine zipper transcription factor like 1

Type

protein-coding

Position

45,823,316–45,916,042 (−)

Aliases

BBS17

Ensembl

ENSG00000163818

RefSeq RNA

NM_001276378.2, NM_001276379.2, NM_001386451.1, NM_001386452.1, NM_001405920.1

RefSeq protein

NP_001263307.1, NP_001263308.1, NP_001373380.1, NP_001373381.1, NP_001392849.1

This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020].