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DNAH5
Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.
DNAH5 is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.2 DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.3
During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.3 Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.4 This disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.4
Mutations in DNAH5 are a common cause of primary ciliary dyskinesia, a rare autosomal recessive disorder that can lead to chronic respiratory infections, reduced fertility, and abnormal placement of internal organs6,8. DNAH5 encodes a heavy chain protein found in the outer dynein arms of motile cilia, where it helps generate the force needed for normal ciliary beating6. When DNAH5 is mutated, cilia cannot beat properly, and this can disrupt the movement of fluid and signaling molecules during early embryonic development. Because of this disruption, left-right patterning may fail6., leading to situs inversus totalis, heterotaxy, or congenital heart defects7.
Studies in patients with DNAH5 mutations have also shown that the protein may be absent from the ciliary axoneme or incorrectly localized, which helps explain the loss of ciliary function. In mouse knockout models, disruption of DNAH5 produces similar laterality defects6, confirming that the gene is important for normal embryonic left-right asymmetry. These knockout studies also support the idea that defective nodal cilia movement is a major cause of the abnormal organ placement seen in affected humans9.
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DNAH5
Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.
DNAH5 is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.2 DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.3
During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.3 Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.4 This disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.4
Mutations in DNAH5 are a common cause of primary ciliary dyskinesia, a rare autosomal recessive disorder that can lead to chronic respiratory infections, reduced fertility, and abnormal placement of internal organs6,8. DNAH5 encodes a heavy chain protein found in the outer dynein arms of motile cilia, where it helps generate the force needed for normal ciliary beating6. When DNAH5 is mutated, cilia cannot beat properly, and this can disrupt the movement of fluid and signaling molecules during early embryonic development. Because of this disruption, left-right patterning may fail6., leading to situs inversus totalis, heterotaxy, or congenital heart defects7.
Studies in patients with DNAH5 mutations have also shown that the protein may be absent from the ciliary axoneme or incorrectly localized, which helps explain the loss of ciliary function. In mouse knockout models, disruption of DNAH5 produces similar laterality defects6, confirming that the gene is important for normal embryonic left-right asymmetry. These knockout studies also support the idea that defective nodal cilia movement is a major cause of the abnormal organ placement seen in affected humans9.
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