ELMOD3 Chromosome 2
ELMO domain containing 3
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What This Gene Does
This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"RNA binding motif containing|ELMO domain containing"
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000115459
Associated Conditions (1)
Autosomal recessive nonsyndromic hearing loss 88
Key Variants
RS148789800
Conflicting classifications of pathogenicity
Health Risk
RS201461413
Conflicting classifications of pathogenicity
Health Risk
RS374954571
Conflicting classifications of pathogenicity
Health Risk
RS564403550
Conflicting classifications of pathogenicity
Health Risk
RS587777040
Pathogenic
Autosomal recessive nonsyndromic hearing loss 88, Autosomal recessive nonsyndromic hearing loss 88
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148789800 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201461413 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374954571 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS564403550 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777040 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 88, Autosomal recessive nonsyndromic hearing loss 88 |