EEFSEC Chromosome 3
Eukaryotic elongation factor, selenocysteine-tRNA specific
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What This Gene Does
Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000132394
Associated Conditions (3)
Autosomal recessive non-syndromic intellectual disability
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Neurodevelopmental disorder with progressive spasticity and brain abnormalities
Key Variants
RS1171115208
Likely pathogenic
Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability
Health Risk
RS765639766
Likely pathogenic
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Neurodevelopmental disorder with progressive spasticity and brain abnormalities, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1171115208 | Health Risk | Likely pathogenic | Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability |
| RS765639766 | Health Risk | Likely pathogenic | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Neurodevelopmental disorder with progressive spasticity and brain abnormalities, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |