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.

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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)

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.

Gene DNAH11

Inheritance Pattern Autosomal recessive

Position (hg19) chr7:g.21750214C>T & g.21639703G>A

Transcript NM_001277115.1

DNA Change c.6727C>T & c.2966G>A

Protein Change p.Arg2243Ter & p.Arg989Gln

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