MAPK8IP3

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 the MAPK8IP3 gene was identified in a male, age 5, with global developmental delay (read full description).

Date of Report

Jan 08, 2019

Full Name

mitogen-activated protein kinase 8-interacting protein 3

Location

Chromosome 16 (16p13.3)

Function

The MAPK8IP3 gene codes for a protein important in the function of cells in the nervous system (Yang et al. 2001).

Database Links

GeneCards: MAPK8IP3

NCBI Gene: 23162

OMIM: 605431

UniProtKB: Q9UPT6

Clinical Significance

The following change was identified in a UDN participant. Several families with children with MAPK8IP3 variants have partnered to create a website for families to connect and learn about ongoing research: https://curemapk8ip3.org.

Gene MAPK8IP3

Inheritance Pattern Autosomal dominant

Position (hg19) chr16:g.1756451C>G

Transcript NM_015133.3

DNA Change c.111C>G

Protein Change p.Tyr37Ter

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