TCEAL1 Chromosome X
Transcription elongation factor A like 1
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What This Gene Does
This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transcription elongation factor A like family
Locus Type
gene with protein product
Location
Xq22.2
Ensembl
ENSG00000172465
Associated Conditions (6)
Neurodevelopmental disorder with gait disturbance
dysmorphic facies
and behavioral abnormalities
X-linked
See cases
Inborn genetic diseases
Key Variants
RS1187653939
Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities
Health Risk
RS2147641837
Likely pathogenic
See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies
Health Risk
RS2147641920
Likely pathogenic
See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies
Health Risk
RS2147641927
Likely pathogenic
See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies
Health Risk
RS2147641982
Likely pathogenic
See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies
Health Risk
RS2147642131
Likely pathogenic
See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies
Health Risk
RS2521930122
Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities
Health Risk
RS2521931041
Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities
Health Risk
RS2521931086
Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities
Health Risk
RS1603180742
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1187653939 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities |
| RS2147641837 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies |
| RS2147641920 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies |
| RS2147641927 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies |
| RS2147641982 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies |
| RS2147642131 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with gait disturbance, dysmorphic facies |
| RS2521930122 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities |
| RS2521931041 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities |
| RS2521931086 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities |
| RS1603180742 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |