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Details of GNAI3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| GNAI3 | --- | P08754 | GNAI3_HUMAN | 2773
| ENSG00000065135
| Guanine nucleotide-binding protein G(k) subunit alpha | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
602483 |
