Disease on EC 4.2.1.134 - very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase
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Arrhythmogenic Right Ventricular Dysplasia
Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients.
Arrhythmogenic Right Ventricular Dysplasia
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.
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.
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.
Muscle Weakness
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Muscular Diseases
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Muscular Diseases
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Muscular Diseases
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.
Myopathies, Structural, Congenital
Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy.
Myopathies, Structural, Congenital
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Myopathies, Structural, Congenital
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.
Myopathies, Structural, Congenital
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.
very-long-chain (3r)-3-hydroxyacyl-coa dehydratase deficiency
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
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