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RSPH1

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Group enriched (Respiratory ciliated cells, Endometrial ciliated cells)

Immune cell specificity

Immune cell enriched (plasmacytoid DC)

Cell line specificity

Group enriched (MCF7, OE19, RPTEC TERT1)

Interaction

Interacts with RSPH6A.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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