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Details of WBSCR16 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| WBSCR16 | --- | Q96I51 | WBS16_HUMAN | 81554
| ENSG00000174374
| Williams-Beuren syndrome chromosomal region 16 protein | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. |
194050 |
