ELMOD1
Description
The ELMOD1 (ELMO domain containing 1) is a protein-coding gene located on chromosome 11.
ELMOD1 acts as a GTPase-activating protein (GAP), specifically targeting guanine nucleotide exchange factors (GEFs) like ARL2, ARL3, ARF1, and ARF6. However, it doesn't exhibit GAP activity towards GTPases outside the Arf family.
ELMOD1 is also known as -.
Associated Diseases
- episodic ataxia type 1
- hearing loss, autosomal dominant 75
- aceruloplasminemia
- dystonia 5
- hearing loss, autosomal dominant 80
- autosomal recessive cerebellar ataxia-blindness-deafness syndrome
- hypermanganesemia with dystonia 2
- hereditary motor and sensory neuropathy, Okinawa type
- purine nucleoside phosphorylase deficiency
- autosomal recessive nonsyndromic hearing loss 4
- corticobasal syndrome
