Disease relevance of SNTG1

• SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis [1].

High impact information on SNTG1

• We found that DGK-zeta recruits gamma 1-syntrophin into the nucleus and that the PDZ-binding motif is required [2].
• Moreover, coimmunoprecipitation and pull-down experiments from brain extracts and cells suggest that DGK-zeta, gamma 1-syntrophin, and dystrophin form a ternary complex [2].
• Mutational analysis of SNTG1 exons in 152 sporadic IS patients has revealed a 6-bp deletion in exon 10 of SNTG1 in one patient and a 2-bp insertion/deletion mutation occurring in a polypyrimidine tract of intronic sequence 20 bases upstream of the SNTG1 exon 5 splice site in two patients [1].
• The F line had higher SYN 2 (ED 14, 18, 20, 22), SYN 3 (ED 22), and SYN 4 (ED 22) expression than the RBC2 line [3].
• The SYN 2 and SYN 4 expression exhibited a similar pattern during embryonic p. major muscle development, which remained constant from ED 14 to ED 22 and declined sharply from ED 22 to ED 24 to a very low level [3].

Anatomical context of SNTG1

• When coexpressed in HeLa cells, DGK-zeta and gamma 1-syntrophin formed a stable complex that partitioned between the cytoplasm and nucleus [2].
• In the brain, DGK-zeta and gamma 1-syntrophin were colocalized in cell bodies and dendrites of cerebellar Purkinjie neurons and other neuronal cell types, suggesting that their interaction is physiologically relevant [2].

Regulatory relationships of SNTG1

• Collectively, our results suggest that gamma 1-syntrophin participates in regulating the subcellular localization of DGK-zeta to ensure correct termination of diacylglycerol signaling [2].

Other interactions of SNTG1

• Both SYN 3 and SYN 4 expression stayed almost constant through both the proliferation and differentiation stages [3].

References