Details of TPM3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| TPM3 | --- | P06753 | TPM3_HUMAN | 7170
| Q2QD06
| Q5VU71 | ENSG00000143549 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal facial shape, Abnormal joint morphology, Abnormal muscle tone, Abnormality of body weight, Abnormality of connective tissue, Abnormality of eye movement, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pelvic girdle bone morphology, Abnormality of prenatal development or birth, Abnormality of skeletal morphology, Abnormality of skeletal muscle fiber size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the brainstem, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cranial nerves, Abnormality of the curvature of the vertebral column, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the face, Abnormality of the foot, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the heart, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the joints of the lower limbs, Abnormality of the larynx, Abnormality of the lower limb, Abnormality of the lung, Abnormality of the motor neurons, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the musculature of the neck, Abnormality of the myocardium, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the palate, Abnormality of the respiratory system, Abnormality of the seventh cranial nerve, Abnormality of the skeletal system, Abnormality of the sternum, Abnormality of the thorax, Abnormality of the upper respiratory tract, Abnormality of the vertebral column, Abnormality of the voice, Age of onset, All, Amyotrophy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Cardiomyopathy, Centrally nucleated skeletal muscle fibers, Cognitive impairment, Congenital hip dislocation, Congenital onset, Cranial nerve paralysis, Decreased body weight, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb muscle weakness, Distal muscle weakness, Dysphagia, EMG abnormality, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Flexion contracture, Functional respiratory abnormality, Generalized muscle weakness, Global developmental delay, Growth abnormality, Heterogeneous, High palate, Hip dislocation, Hyperlordosis, Joint dislocation, Juvenile onset, Limb joint contracture, Limb-girdle muscle atrophy, Lumbar hyperlordosis, Malformation of the heart and great vessels, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber inclusion bodies, Muscle weakness, Muscular hypotonia, Myopathy, Narrow face, Narrow palate, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Onset, Onset and clinical course, Ophthalmoparesis, Ophthalmoplegia, Pectus excavatum, Pes cavus, Phenotypic abnormality, Phenotypic variability, Prenatal movement abnormality, Proximal muscle weakness, Ptosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry, Weakness of muscles of respiration.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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