NRBP1

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 male, age 12, with intellectual disability, seizures, brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi), and a bulging, weakened wall of the aortic root (aortic root aneurysm) (read full description).

Date of Report

Jul 29, 2019

Full Name

Nuclear receptor-binding protein 1

Location

Chromosome 2 (2p23.3)

Function

The NRBP1 gene codes for a protein that plays a role in endoplasmic reticulum and Golgi apparatus trafficking (De Langhe, et al. 2002).

Database Links

GeneCards: NRBP1

NCBI Gene: 29959

OMIM: 606010

UniProtKB/Swiss-Prot: Q9UHY1

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 NRBP1

Inheritance Pattern Unknown

Position (hg19) chr2:g.27656601G>A

Transcript NM_013392.2

DNA Change c.272G>A

Protein Change p.Gly91Asp

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