DNAH11

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.

Changes in this gene were identified in a female, age 14 with primary ciliary dyskinesia (read full description).

Date of Report

May 01, 2019

Full Name

Dynein axonemal heavy chain 11

Location
Chromosome 7 (7p15.3)
DNAH11-7p15.png

Function

The DNAH11 gene codes for a protein that is thought to be involved in the movement of cilia and flagella (Chapelin et al., 1997).

Database Links

GeneCards: GC07P021582

Genetics Home Reference: DNAH11 gene

NCBI Gene: 8701

OMIM: 603339

UniProtKB/Swiss-Prot: Q96DT5

Clinical Significance

Changes in the DNAH11 gene were identified in a UDN participant and other individuals with primary ciliary dyskinesia.

 

Gene DNAH11
Inheritance Pattern Autosomal recessive
Position chr7:21750214 & chr7:21639703
Transcript NM_001277115
DNA Change c.6727C>T & c.2966G>A
Protein Change p.R2243X & p.R989Q
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