EFHD1

Chr 2

EF-hand domain family member D1

Also known as: MST133, MSTP133, PP3051, SWS2

NCBI Gene: 80303 ENSG00000115468 UniProt: Q9BUP0

The protein functions as a calcium sensor for mitochondrial flash activation and associates with the mitochondrial inner membrane. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability, typically with onset in infancy or early childhood. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.49

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)