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Disease on EC 4.2.1.134 - very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Arrhythmogenic Right Ventricular Dysplasia
Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients.
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.
Atherosclerosis
The HACD4 haplotype as a risk factor for atherosclerosis in males.
Carcinogenesis
Identification of differentially expressed genes and functional annotations associated with metastases of the uveal melanoma.
Colonic Neoplasms
Frameshift Mutations in Repeat Sequences of ANK3, HACD4, TCP10L, TP53BP1, MFN1, LCMT2, RNMT, TRMT6, METTL8 and METTL16 Genes in Colon Cancers.
Dehydration
Congenital myopathy is caused by mutation of HACD1.
Muscle Hypotonia
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.
Muscle Weakness
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Muscular Diseases
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Congenital myopathy is caused by mutation of HACD1.
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.
Myopathies, Structural, Congenital
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.
Neoplasms
Inactivating Frameshift Mutations of HACD4 and TCP10L Tumor Suppressor Genes in Colorectal and Gastric Cancers.
Stomach Neoplasms
Inactivating Frameshift Mutations of HACD4 and TCP10L Tumor Suppressor Genes in Colorectal and Gastric Cancers.
very-long-chain (3r)-3-hydroxyacyl-coa dehydratase deficiency
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.