PPFIA3

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.

A change in this gene was identified in a female, age 8 with intractable seizures, large head size (macrocephaly), global developmental delay, and abnormal posturing due to involuntary muscle contractions (dystonia) (read full description).

Date of Report

Apr 16, 2020

Full Name

PTPRF interacting protein alpha 3

Location
Chromosome 19 (19q13.33)


Function

PPFIA3, also called Liprin-alpha-3, is a member of the liprin family. Liprins interact with members of the LAR family, which are important for guiding axons and mammary gland development. This protein may regulate cell focal adhesions (Serra-Pagès et al., 1998).

Database Links

GeneCards: GC19P049119

NCBI Gene: 8541 

OMIM: 603144

UniProtKB/Swiss-Prot: O75145

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene PPFIA3
Inheritance Pattern Autosomal dominant
Position Chr19: 49637134
Transcript NM_003660.3
DNA Change c.1243C>T
Protein Change p.Arg415Trp
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