RPAP3

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

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 2 with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly) (read full description).

Date of Report

Oct 17, 2019

Full Name

RNA polymerase II associated protein 3

Location
Chromosome 12 (12q13.11)


Function

The RPAP3 gene codes for a protein that is physically and functionally associated with the RNA polymerase II complex. It plays an important role in RNA transcription (Jeronimo et al., 2007).

Database Links

GeneCards: GC12M047661

NCBI Gene: 79657

OMIM: 611477

UniProtKB/Swiss-Prot: Q9H6T3

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 RPAP3
Inheritance Pattern Autosomal recessive
Position chr12:g.48062788; chr12:g.48096499
Transcript NM_024604.2
DNA Change c.1624delC; c.125T>C
Protein Change p.Leu542PhefsTer18; p.Leu42Pro
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