6 articles
Alsin
Alsin, encoded by the human ALS2 gene at 2q33.1, is a 1,657-amino-acid Rab5 and Rac1 guanine nucleotide exchange factor; its loss causes recessive IAHSP, JPLS, and JALS motor neuron diseases.
Caprin
Caprin (Caprin-1, RNG105; gene CAPRIN1) is a cytoplasmic RNA-binding phosphoprotein that promotes G3BP1 stress granule assembly, regulates dendritic mRNA localization and memory, and causes neurodegeneration or cancer when altered.
MATR3
MATR3 (matrin 3), gene at 5q31.2 encoding a DNA- and RNA-binding nuclear matrix protein with two zinc fingers and two RRMs; S85C mutation causes VCPDM distal myopathy and ALS21.
TARDBP
TARDBP (TAR DNA binding protein), also called ALS10, is a chromosome 1 gene encoding TDP-43, a nuclear DNA/RNA-binding protein regulating transcription and splicing; mutations cause ALS, FTD, and ALS-FTD.
TIA1
TIA1 (T-cell restricted intracellular antigen-1, TIA-1) is a human RNA-binding protein gene at 2p13.3 that nucleates stress granules; low-complexity-domain mutations cause ALS26 with or without FTD and Welander distal myopathy.
VAPB
VAPB (VAP-B, ALS8, HGNC:12649) is a human ER-resident type IV membrane protein gene at 20q13.32 whose MSP domain binds FFAT-motif proteins to build ER-organelle contact sites; P56S mutations cause dominant familial ALS8.