PPFIA3

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

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A change in the PPFIA3 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: PPFIA3

NCBI Gene: 8541

OMIM: 603144

UniProtKB/Swiss-Prot: O75145

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene PPFIA3

Inheritance Pattern Autosomal dominant

Position (hg19) chr19:g.49637134C>T

Transcript NM_003660.3

DNA Change c.1243C>T

Protein Change p.Arg415Trp

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