| Type | Description |
|---|---|
| Definition | acyl-CoA dehydrogenase short/branched chain |
| Date | Results | Publications |
|---|---|---|
| 2019-06-15 12:25:00 | ACADSB mutation is associated with short/branched-chain acyl-CoA dehydrogenase deficiency. | 30730842 |
| 2014-03-22 10:10:00 | the c.1165 A>G mutation before knowing whether the optimal screening cut-off would minimize true positives or false negatives for SBCADD associated with this mutation. | 23712021 |
| 2012-03-20 11:46:00 | Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients | 22277967 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-10-23 11:10:00 | These findings confirm that SBCAD deficiency can be identified through newborn screening by acylcarnitine analysis. | 20547083 |
| Type | IDs |
|---|---|
| Synonymous | 2-MEBCAD, ACAD7, SBCAD |
| Gene |
UniProtKB-ID:
ACDSB_HUMAN,
A0A0S2Z3P9_HUMAN
UniprotKB:
P45954,
A0A0S2Z3P9
UniParc:
UPI00017A7905,
UPI00001251DF
EMBL:
AF260672,
AF260670,
AF260668,
AF260677,
AF260671,
CH471066,
AK298638,
AF260669,
AK314241,
KU177879,
AL731666,
AL831821,
AF260676,
AF260678,
BC013756,
AC012391,
U12778,
AF260673,
AF260675,
AC073585,
AF260674
Ensembl:
ENSG00000196177
KO:
hsa:36
|
| Nucleutide sequences |
EMBL-CDS:
AAA74424.1,
CAD38535.2,
AAF97921.1,
BAG36909.1,
AAH13756.1,
BAG60813.1,
EAW49291.1,
ALQ33337.1
Ensembl_TRS:
ENST00000368869,
ENST00000358776
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000357873,
ENSP00000357862
RefSeq:
NP_001317103.1,
NP_001600.1
|
| Others |
UniRef100:
UniRef100_P45954
UniRef90:
UniRef90_P45954
UniRef50:
UniRef50_P45954
UniGene:
Hs.81934
CCDS:
CCDS7634.1,
CCDS81518.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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