MeSH definition : A widely-expressed protein of approximately 400 to 500 amino acids. Its N-terminal
region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY,
as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide
repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA
with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).; A widely-expressed guanine nucleotide exchange factor protein of approximately 400
to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING
PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion
of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated
with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).;
A widely-expressed protein of approximately 400 to 500 amino acids. Its N-terminal
region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY,
as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide
repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA
with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1). A widely-expressed guanine nucleotide exchange factor protein of approximately 400
to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING
PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion
of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated
with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).
Allowable qualifiers