OFD1

OFD1

A gene on chromosome Xp22 that encodes a centrosomal protein involved in the ciliogenesis.

Molecular pathology
OCRL mutations cause oculocerebrorenal syndrome of Lowe and Dent disease.
References in periodicals archive ?
The data were collected from Chinese outward foreign direct investment (OFD1) firms.
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
This case presents a six-year-old Chinese boy with RP who had an episode of IDON and was detected with a mutation in oral-facial-digital syndrome 1 (OFD1) gene.
Targeted next-generation sequencing revealed a homozygous p.G985S mutation (c.G2953A) in OFD1 gene, with X-linked recessive inheritance.
The targeted sequencing revealed a homozygous p.G985S mutation in OFD1 gene with X-linked patterns.
When JS is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner [3].
Tang and collaborators show that the centriolar satellite protein oral-facial-digital syndrome 1 (OFD1) coimmunoprecipitates with LC3.
Moreover, in whole islets, depletion of two different basal body proteins, OFD1 and BBS4, which lead to PC loss [87] and PC dysfunction, respectively [88], decreases the first phase of insulin secretion, which is one of the earliest anomalies present in patients susceptible to type 2 diabetes [89, 90].
show that ciliogenesis is induced in conditions of serum starvation through autophagy-mediated degradation of the protein oral-facial-digital syndrome 1 (OFD1).
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.
Briisselbach, "Inhibition ofD1, D2, and A cyclin expression in HL-60 cells by the lipid peroxydation product 4-hydroxynonenal," Free Radical Biology and Medicine, vol.
OFD1 is mutated in X- linked Joubert syndrome and interacts with LCA5-encoded lebercilin.