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Details of TFAP2A gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| TFAP2A | AP2TF,TFAP2 | P05549 | AP2A_HUMAN | 7020
| ENSG00000137203
| Transcription factor AP-2-alpha | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Branchiooculofacial syndrome (BOFS) [MIM:113620]: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. |
113620 |
