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.

A change in the NACC1 gene was identified in a male, age 20 months, with seizures, cataracts, a small head size (microcephaly), and global developmental delay (read full description).

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: NACC1

NCBI Gene: 112939

OMIM: 610672

UniProtKB/Swiss-Prot: Q96RE7

Clinical Significance

A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Schoch et al, 2017).

Families affected by this condition have formed a Facebook group to connect with one another and share information.

Gene NACC1

Inheritance Pattern Unknown

Position (hg19) chr19:g.13246913C>T

Transcript NM_052876.3

DNA Change c.892C>T

Protein Change p.Arg298Trp

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