| Type | Description |
|---|---|
| Definition | basic helix-loop-helix family member a9 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-14 12:33:00 | This is the second report providing evidence of association of polydactyly with Mesoaxial synostotic syndactyly caused by frameshift variant in the gene BHLHA9. The present molecular investigation will support genetic counselling of the local population carrying diseased variants. | 31152918 |
| 2019-12-07 10:28:00 | BHLHA9 duplication causing split hand/foot malformation with long bone deficiency. | 31200655 |
| 2019-04-06 11:51:00 | A novel insertion and deletion mutation in the BHLHA9 causes polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. | 30107244 |
| 2016-10-22 11:31:00 | Founder triplication of BHLHA9 is associated with femoral-tibial-digital malformations. | 26333411 |
| 2016-02-13 12:12:00 | this is the first study revealing the underlying genetic factor for the development of GWC, and demonstrating the presence of triplications involving BHLHA9 | 25351291 |
| Type | IDs |
|---|---|
| Synonymous | BHLHF42, CCSPD |
| Gene |
UniProtKB-ID:
BHA09_HUMAN
UniprotKB:
Q7RTU4
UniParc:
UPI0000E59DAC
EMBL:
AC032044,
BK000140
Ensembl:
ENSG00000205899
KO:
hsa:727857
|
| Nucleutide sequences |
EMBL-CDS:
DAA00302.1
Ensembl_TRS:
ENST00000391429
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000375248
RefSeq:
NP_001157877.1
|
| Others |
UniRef100:
UniRef100_Q7RTU4
UniRef90:
UniRef90_Q7RTU4
UniRef50:
UniRef50_Q7RTU4
UniGene:
Hs.723790
CCDS:
CCDS45560.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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