GSC Chromosome 14
Goosecoid homeobox
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What This Gene Does
This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000133937
Associated Conditions (1)
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Key Variants
RS587777288
Pathogenic
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Health Risk
RS587777289
Pathogenic
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Health Risk
RS587777290
Pathogenic
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587777288 | Health Risk | Pathogenic | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
| RS587777289 | Health Risk | Pathogenic | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
| RS587777290 | Health Risk | Pathogenic | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |