NEMF Chromosome 14
Nuclear export mediator factor
Upload your DNA to see your personal genotypes for variants in NEMF.
What This Gene Does
This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]
Associated Conditions (4)
See cases
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
NEMF-related disorder
Inborn genetic diseases
Key Variants
RS1239857520
Likely pathogenic
Health Risk
RS1244609956
Likely pathogenic
Health Risk
RS1892669150
Likely pathogenic
See cases, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, See cases
Health Risk
RS1892998702
Likely pathogenic
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Health Risk
RS2139857246
Likely pathogenic
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Health Risk
RS2503091962
Likely pathogenic
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Health Risk
RS2503266718
Likely pathogenic
NEMF-related disorder, NEMF-related disorder
Health Risk
RS2503365928
Likely pathogenic
Health Risk
RS1890324880
Pathogenic
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, See cases, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Health Risk
RS1890664852
Pathogenic
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Health Risk
RS1891001641
Pathogenic
Health Risk
RS1891004545
Pathogenic
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1239857520 | Health Risk | Likely pathogenic | — |
| RS1244609956 | Health Risk | Likely pathogenic | — |
| RS1892669150 | Health Risk | Likely pathogenic | See cases, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, See cases |
| RS1892998702 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS2139857246 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS2503091962 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS2503266718 | Health Risk | Likely pathogenic | NEMF-related disorder, NEMF-related disorder |
| RS2503365928 | Health Risk | Likely pathogenic | — |
| RS1890324880 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, See cases, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS1890664852 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS1891001641 | Health Risk | Pathogenic | — |
| RS1891004545 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS1892495588 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS1892495985 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS2503129066 | Health Risk | Pathogenic | — |
| RS2503151361 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503266791 | Health Risk | Pathogenic | — |
| RS2503270978 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS2503322134 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS371405135 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS748663568 | Health Risk | Pathogenic | — |
| RS765802022 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS766931948 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| RS767212051 | Health Risk | Pathogenic | — |