SMDT1
Description
The SMDT1 (single-pass membrane protein with aspartate rich tail 1) is a protein-coding gene located on chromosome 22.
SMDT1 is a mitochondrial protein essential for the regulation of calcium uptake into mitochondria. It forms part of the mitochondrial calcium uniporter complex (uniplex), which is responsible for transporting calcium ions across the mitochondrial membrane. SMDT1 plays a crucial role in bridging the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU. This interaction helps regulate the uniplex complex's response to intracellular calcium signaling, ensuring appropriate calcium uptake into mitochondria.
SMDT1 is a crucial regulatory component of the mitochondrial calcium uniporter complex (uniplex), which controls calcium import into mitochondria. It acts as a bridge between the calcium-sensing proteins MICU1 and MICU2 and the calcium-conducting subunit MCU. SMDT1 plays a pivotal role in fine-tuning the uniplex complex's response to intracellular calcium signals, ensuring appropriate regulation. This is achieved by mediating MCU activation and retaining MICU1 at the MCU pore, leading to a tightly controlled uniplex complex activity.
SMDT1 is also known as C22orf32, DDDD, EMRE.
Associated Diseases
- schizophrenia
- bipolar disorder
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 15/16
- anorexia nervosa
- torsion dystonia 2
