leucine zipper transcription factor like 1

BBS17

leucine zipper transcription factor-like 1

Leucine zipper transcription factor-like protein 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].

Varaico: Literature-Extracted Genetic Variants

LZTFL1

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbol