EEF1D Chromosome 8
Eukaryotic translation elongation factor 1 delta
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What This Gene Does
This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]
Associated Conditions (7)
Neurodevelopmental disorder
Myelodysplastic syndrome associated with isolated del(5q)
Moyamoya angiopathy
Autosomal recessive non-syndromic intellectual disability
Neurodevelopmental disorder with thin corpus callosum
hypotonia
and absent language
Key Variants
RS369780574
Conflicting classifications of pathogenicity
Health Risk
RS1333517857
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1347285757
Likely pathogenic
Myelodysplastic syndrome associated with isolated del(5q), Myelodysplastic syndrome associated with isolated del(5q)
Health Risk
RS1826751784
Likely pathogenic
Moyamoya angiopathy, Moyamoya angiopathy
Health Risk
RS1563978827
Pathogenic
Autosomal recessive non-syndromic intellectual disability, Neurodevelopmental disorder with thin corpus callosum, hypotonia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369780574 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1333517857 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1347285757 | Health Risk | Likely pathogenic | Myelodysplastic syndrome associated with isolated del(5q), Myelodysplastic syndrome associated with isolated del(5q) |
| RS1826751784 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS1563978827 | Health Risk | Pathogenic | Autosomal recessive non-syndromic intellectual disability, Neurodevelopmental disorder with thin corpus callosum, hypotonia |