General Information:

Id: 5,886 (click here to show other Interactions for entry)
Diseases: Bardet-Biedl syndrome 17 - [OMIM]
Homo sapiens
Reference: Marion V et al.(2012) 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 J. Med. Genet. 49: 317-321 [PMID: 22510444]

Interaction Information:

Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55637

increases_activity of

in dermal fibroblasts