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574011 HACD1

574011

HACD1

3-hydroxyacyl-CoA dehydratase 1

protein-coding

Canis lupus familiaris

基因描述

Type Description
Definition 3-hydroxyacyl-CoA dehydratase 1

研究结论

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

名称对应

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

全选

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