DNAH5 Summary

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

DNAH5 Details

Gene Symbol : DNAH5

Gene Name : Dynein axonemal heavy chain 5

Chromosome : CHR 5: 140,118,28-136,903,27

Locus : 5p15.2

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ANKH Summary

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

ANKH Details

Gene Symbol : ANKH

Gene Name : ANKH inorganic pyrophosphate transport regulator

Chromosome : CHR 5: 148,717,77-147,047,99

Locus : 5p15.2

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