| Type | Description |
|---|---|
| Definition | actin like 6B |
| Date | Results | Publications |
|---|---|---|
| 2020-08-01 12:07:00 | ACTL6B loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism. | 32312822 |
| 2020-02-08 12:06:00 | Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Neurons. | 31031012 |
| 2019-02-23 11:30:00 | provide additional genetic and clinical data on three new cases that support the pathogenic role of ACTL6B gene mutation in a syndromic form of Developmental and epileptic encephalopathies. | 30656450 |
| 2017-10-28 10:52:00 | Missense Mutation in ACTL6B gene is associated with Neurodevelopmental Disorders. | 28867141 |
| 2016-04-09 10:23:00 | we identified BAF53b as a neuron-specific subunit of the chromatin remodeling BAF complexes. | 26077106 |
| Type | IDs |
|---|---|
| Synonymous | ACTL6, BAF53B, arpNalpha |
| Gene |
UniProtKB-ID:
ACL6B_HUMAN
UniprotKB:
O94805
UniParc:
UPI0000126725
EMBL:
AF053356,
AC099394,
CH471091,
BC020944,
AB015906,
CH236956,
AF041475,
AK314940
Ensembl:
ENSG00000077080
KO:
hsa:51412
|
| Nucleutide sequences |
EMBL-CDS:
EAW76502.1,
BAA74576.1,
AAP21874.1,
BAG37446.1,
EAL23823.1,
AAC78795.1,
AAD54678.1,
AAH20944.1
Ensembl_TRS:
ENST00000160382
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000160382
RefSeq:
NP_057272.1
|
| Others |
UniRef100:
UniRef100_O94805
UniRef90:
UniRef90_O94805
UniRef50:
UniRef50_O96019
UniGene:
Hs.259831
CCDS:
CCDS5702.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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