| Type | Description |
|---|---|
| Definition | kelch like family member 24 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 12:29:00 | we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM | 30715372 |
| 2019-11-16 11:13:00 | Study in a Dutch family propose that a KLHL24 mutation cause a syndromic rather than a skin-only type of epidermolysis bullosa, in which cardiomyopathy may be a dominant symptom. | 29779254 |
| 2019-06-01 10:07:00 | Case Reports: Epidermolysis bullosa simplex -KLHL24 is characterized by congenital skin defects of the lower limbs, which heal rapidly, leaving hypopigmented-atrophic patches and peculiar stellate and linear raised scars. | 30226531 |
| 2017-09-16 12:23:00 | KLHL24 mutation is associated in the pathogenesis of skin abnormalities and epidermolysis bullosa simplex. | 28532758 |
| 2017-09-09 14:13:00 | KLHL24 Mutation is associated with epidermolysis bullosa. | 27798626 |
| Type | IDs |
|---|---|
| Synonymous | DRE1, EBSSH, KRIP6 |
| Gene |
UniProtKB-ID:
KLH24_HUMAN
UniprotKB:
Q6TFL4
UniParc:
UPI0000EE23B3,
UPI000020A86F
EMBL:
AK000066,
BX648812,
AY422472,
BX648466,
DQ925701,
AK026326,
BC142993
Ensembl:
ENSG00000114796
KO:
hsa:54800
|
| Nucleutide sequences |
EMBL-CDS:
CAI46031.1,
ABI96896.1,
BAB15447.1,
AAR13703.1,
AAI42994.1,
BAA90921.1,
CAI46002.1
Ensembl_TRS:
ENST00000476808,
ENST00000242810,
ENST00000454652
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000395012,
ENSP00000419010,
ENSP00000242810
RefSeq:
NP_001336346.1,
XP_016862144.1,
NP_001336351.1,
NP_001336358.1,
NP_001336344.1,
XP_024309375.1,
NP_001336354.1,
NP_001336350.1,
XP_016862150.1,
NP_001336353.1,
NP_001336355.1,
XP_016862142.1,
XP_005247609.1,
NP_001336352.1,
NP_001336357.1,
NP_001336349.1,
NP_001336343.1,
XP_016862147.1,
NP_001336345.1,
NP_001336342.1,
NP_060114.2,
NP_001336348.1,
NP_001336347.1
|
| Others |
UniRef100:
UniRef100_Q6TFL4
UniRef90:
UniRef90_Q6TFL4
UniRef50:
UniRef50_Q6TFL4
UniGene:
Hs.407709
CCDS:
CCDS3246.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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