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DNAH11

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.

Changes in this gene were identified in a female, age 14, with primary ciliary dyskinesia (read full description) (OMIM 611884).

Date of Report

May 01, 2019

Full Name

Dynein axonemal heavy chain 11

Location
Chromosome 7 (7p15.3)
Location Image

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: DNAH11

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 (OMIM 611884).

Families affected by this condition have formed a Facebook group to connect with one another and share information. More information about the condition can be found on the Primary Ciliary Dyskinesia Foundation website. 

 

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
DNAH11 Autosomal recessive chr7:g.21750214C>T & g.21639703G>A NM_001277115.1 c.6727C>T & c.2966G>A p.Arg2243Ter & p.Arg989Gln
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