| SMNDC1 | |
|---|---|
| Full Name | SMN Survival Motor Neuron Domain Containing 1 |
| Synonyms | SMNDC1, T-STAR, Tas |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | [10285](https://www.ncbi.nlm.nih.gov/gene/10285) |
| Ensembl ID | [ENSG00000156876](https://www.ensembl.org/Homo_sapiens/ENSG00000156876) |
| UniProt ID | [Q9Y2X9](https://www.uniprot.org/uniprot/Q9Y2X9) |
| OMIM ID | 608030 |
| Associated Diseases | [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis) |
SMN1 is a human gene whose product sMNDC1** (SMN Survival Motor Neuron Domain Containing 1), also known as T-STAR, is a member of the SMN (Survival Motor Neuron) protein complex involved in spliceosomal snRNP biogenesis. The protein contains an SMN domain that mediates interactions with other SMN complex components including SMN1, GEMIN2, and GEMIN4. Variants in SMN1 have been implicated in Spinal Muscular Atrophy (SMA), Amyotrophic Lateral Sclerosis (ALS), Other Neurological Implications. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
SMNDC1 (SMN Survival Motor Neuron Domain Containing 1), also known as T-STAR, is a member of the SMN (Survival Motor Neuron) protein complex involved in spliceosomal snRNP biogenesis. The protein contains an SMN domain that mediates interactions with other SMN complex components including SMN1, GEMIN2, and GEMIN4.
SMNDC1 functions as a co-regulator of RNA processing and gene expression. It has been shown to:
SMNDC1 is genetically linked to spinal muscular atrophy through its interaction with the SMN1 and SMN2 genes. While mutations in SMNDC1 are not primary causes of SMA, the protein plays a supportive role in the SMN complex function that is compromised in SMA. Reduced SMN complex activity leads to defective snRNP assembly and subsequent splicing defects in motor neurons.
Alterations in RNA processing and spliceosomal function are implicated in amyotrophic lateral sclerosis pathogenesis. SMNDC1:
SMNDC1 is ubiquitously expressed with highest levels in:
In the brain, expression is detected in:
SMNDC1 represents a potential therapeutic target for SMA:
Understanding SMNDC1's role in RNA processing may provide insights into ALS pathogenesis:
SMNDC1 interacts with: