Type | Description |
---|---|
Definition | 3-hydroxyacyl-CoA dehydratase 1 |
Date | Results | Publications |
---|---|---|
2017-10-10 09:37:00 | Longitudinal analyses in myopathic Labrador retrievers reveal several membrane-associated defects, including ultrastructural triads dysmorphogenesis and mitochondrial mislocalization. | 27939133 |
2017-10-10 09:24:00 | Loss of function in myoblasts, knockout mice and spontaneously affected Labrador retrievers leads to reduced myoblast fusion (hypotrophy), associated with modified lipid composition and physical properties of membranes. | 26160855 |
2017-10-10 09:10:00 | Labrador retrievers carrying two copies of a unique HACD1 loss-of-function allele that recently disseminated worldwide, are all affected by a congenital myopathy, confirming its role in muscle development. | 23071563 |
2017-10-10 08:59:00 | A loss-of-function mutation identified by genetic mapping in a French pedigree of Labrador retrievers causes a congenital myopathy named centronuclear myopathy (CNM). | 15829503 |
2017-05-20 11:59:00 | confirm that dogs deficient in HACD1 are relevant models | 27939133 |
Type | IDs |
---|---|
Synonymous | PTPLA |
Gene |
UniProtKB-ID:
HACD1_CANLF
UniprotKB:
Q4W1W1
UniParc:
UPI00017BE7A8,
UPI0000526275
EMBL:
AJ876904,
AJ876905
KO:
cfa:574011
|
Nucleutide sequences |
EMBL-CDS:
CAI46275.1,
CAI46276.1
|
Protein sequencees |
RefSeq:
NP_001020440.1
|
Others |
UniRef100:
UniRef100_Q4W1W1
UniRef90:
UniRef90_B0YJ81
UniRef50:
UniRef50_B0YJ81
UniGene:
Cfa.38724
|
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