ATP2A2 Summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]

ATP2A2 Details

Gene Symbol : ATP2A2

Gene Name : ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Chromosome : CHR 12: 110,281,226-110,351,092

Locus : 12q24.11

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IFT81 Summary

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

IFT81 Details

Gene Symbol : IFT81

Gene Name : Intraflagellar transport 81

Chromosome : CHR 12: 110,124,334-110,218,794

Locus : 12q24.11

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