| Type | Description |
|---|---|
| Definition | hydroxyacyl-CoA dehydrogenase |
| Date | Results | Publications |
|---|---|---|
| 2017-04-22 10:29:00 | The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes. | 27181376 |
| 2016-09-10 11:33:00 | Paretic muscle in hemiparetic stroke survivors had lower HAD concentration. | 26361074 |
| 2016-05-28 10:50:00 | We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression | 26316438 |
| 2016-03-26 10:41:00 | in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations. | 26268944 |
| 2013-03-16 11:48:00 | Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. | 23273570 |
| Type | IDs |
|---|---|
| Synonymous | HAD, HADH1, HADHSC, HCDH, HHF4, MSCHAD, SCHAD |
| Gene |
UniProtKB-ID:
HCDH_HUMAN,
A0A140VK76_HUMAN,
B3KTT6_HUMAN
UniprotKB:
Q16836,
A0A140VK76,
B3KTT6
UniParc:
UPI0001E5E839,
UPI000013EECF,
UPI0000372EBC,
UPI0001610EB8
EMBL:
AF001902,
BC000306,
AF001903,
AF095703,
AC118062,
AC114733,
X96752,
HM005616,
AK096018,
AF001904
Ensembl:
ENSG00000138796
KO:
hsa:3033
|
| Nucleutide sequences |
EMBL-CDS:
AAB54008.1,
AAB54009.1,
AAY41050.1,
CAA65528.1,
AAB58153.1,
AAD13581.1,
AAH00306.1,
AEE61213.1,
BAG53198.1
Ensembl_TRS:
ENST00000309522,
ENST00000603302
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000474560,
ENSP00000312288
RefSeq:
NP_005318.6,
NP_001171634.3,
NP_001317956.2
|
| Others |
UniRef100:
UniRef100_Q16836,
UniRef100_A0A2R9AY40
UniRef90:
UniRef90_Q16836,
UniRef90_A0A0D9SFP2
UniRef50:
UniRef50_Q16836
UniGene:
Hs.438289
CCDS:
CCDS3678.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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