HNRNPK

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 16 with intellectual disability, facial differences, skull differences (metopic craniosynostosis), and low muscle tone (hypotonia) (read full description).

Date of Report

Oct 07, 2019

Full Name

heterogeneous nuclear ribonucleoprotein K

Location
Chromosome 9 (9q21.32)


Function

The HNRNPK gene codes for heterogeneous nuclear ribonucleoprotein K, which helps regulate transcription, specifically by influencing pre-mRNA processing, metabolism, and transport. In addition, it plays an important role in response to DNA damage and is a cofactor for p53 (Moumen et al., 2005, UniProtKB).

Database Links

GeneCards: GC09M083969

Genetics Home Reference: HNRNPK

NCBI Gene: 3190 

OMIM: 600712

UniProtKB/Swiss-Prot: P61978

Clinical Significance

Changes in the HNRNPK gene have been found in individuals with Au-Kline syndrome (OMIM). A UDN participant, who has features of this condition, was found to carry the following genetic change:

Gene HNRNPK
Inheritance Pattern Autosomal dominant
Position Chr9:86591920
Transcript NM_002140.3
DNA Change c.203T>G
Protein Change p.Leu68Arg
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