RBED1 (RNA binding motif and ELMO domain 1) contains an ELMO domain. There are 6 named isoforms produced by alternative splicing.
Function:
Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.
Subunit:
Contains 1 ELMO domain.
Tissue Specificity:
Both isoform 1 and isoform 6 are widely expressed.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss.
SWISS:
Q96FG2
Gene ID:
84173
Database links:
Entrez Gene: 84173 Human
SwissProt: Q96FG2 Human
Unigene: 269990 Human
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