RPA1

On this page, you will find information about a genetic change that was 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.

A change in this gene was identified in a female, age 1 with low T-cell lymphocyte levels (T-cell lymphopenia) and immune system abnormalities (decreased IgG level in blood) (read full description).

Date of Report

Dec 19, 2019

Full Name

replication protein A1

Location
Chromosome 17 (17p13.3)


Function

Replication protein A (RPA) is important for DNA replication, repair, and recombination. It is composed of three subunits termed RPA1, RPA2, and RPA3. The RPA1 subunit is responsible for high affinity single strand DNA binding (Haring et al., 2008).

Database Links

GeneCards: GC17P001829

NCBI Gene: 6117

OMIM: 179835

UniProtKB/Swiss-Prot: P27694

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 RPA1
Inheritance Pattern Autosomal dominant
Position Chr17: 1782557
Transcript NM_002945.3
DNA Change c.808A>G
Protein Change p.T270A
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