CDIPT

On this page, you will find information about a genetic change that was identified in a UDN participant. 

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in this gene were identified in a male, age 4 with seizures, involuntary muscle contractions (dystonia), global developmental delay, and upbeat nystagmus (read full description).

 

Date of Report

Oct 01, 2020

Full Name

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

Location
Chromosome 16 (16p11.2)
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Function

Also known as phosphatidylinositol synthase, this protein is a member of the CDP-alcohol phosphatidyl transferase class-I family, and is an integral membrane protein located on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. It functions to catalyze the biosynthesis of phosphatidylinositol (Lykidis et al., 1997).

Database Links

GeneCards: GC16M029874

NCBI Gene: 10423 

OMIM: 605893

UniProtKB/Swiss-Prot: O14735

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene CDIPT
Inheritance Pattern Maternally inherited; paternally inherited
Position chr16:29872454; chr16: 29871937
Transcript NM_006319.3
DNA Change c.305T>G; c.379G>A
Protein Change p.Val102Gly; p.Gly127Arg
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