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Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family (By similarity). Additionally we are shipping ELMO/CED-12 Domain Containing 1 Proteins (6) and many more products for this protein.
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The non-opioid sigma-1 receptor (S1R (show TMBIM4 Antibodies)) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 (show ELMOD2 Antibodies) resulted in loss of GAP activity.
Elmod1 has relatively high and selective expression in the brain but as of 2014 has not been well-studied with respect to CNS function or disease associations. It is part of the core brain ignorome. Elmod1 has a high cis (show CISH Antibodies)-eQTL (show EQTN Antibodies) in hippocampus, hypothalamus, striatum. Hearing sensitivity trait in GeneNetwork.org also maps to the region containing Elmod1.
This finding connecting ELMOD1 deficiencies with stereocilia dysmorphologies establishes a link between the Ras superfamily of small regulatory GTPases and the actin cytoskeleton dynamics of hair cell stereocilia.
Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family (By similarity).
ELMO domain containing 1
, ELMO domain-containing protein 1