NACC1

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.

Date of Report

Jul 01, 2016

Full Name

Nucleus accumbens associated 1

Location
Chromosome 19 (19p13.2)


Function

The NACC1 gene codes for a protein involved in transcriptional repression (Korutla et al., 2002).

Database Links

GeneCards: GC19P013117

Genetics Home Reference: NACC1 gene

NCBI Gene: 112939

OMIM: 610672

UniProtKB/Swiss-Prot: Q96RE7

Clinical Significance

The following change in this gene was identified in a UDN participant:

Gene NACC1
Inheritance Pattern Unknown
Position Chr19: 13246913
Transcript NM_052876.3
DNA Change c.892C>T
Protein Change p.R298W

Other individuals with similar symptoms and changes in this gene have been identified (Schoch et al, 2017). Families affected by this condition have formed a support group on Facebook to connect with one another and share information.

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