Mitochondria Phenome Knowledgebase

Gene Symbol ACSL4
Ensembl ID ENSG00000068366 Entrez 2182
Gene Alias ACS4; FACL4; LACS4; MRX63; MRX68 Subcellular Locations Microsome Mitochondria Mitochondrial-outer-membrane Peroxisome
Map Position Xq22.3-q23 Subcell PMIDs 11889465
OMIM Gene 300157 Protein Complex
Swissprot ID O60488 Swissprot Description Long-chain-fatty-acid-CoA ligase 4
OMIM Disease Mental retardation X linked (MRX63) [300387]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACSL4 300387 Musculoskeletal-diseases musculoskeletal #11889465
ACSL4 300387 Bone-diseases musculoskeletal #11889465
ACSL4 300387 Spinal-diseases kyphosis; scoliosis musculoskeletal 11889465
ACSL4 300387 Craniofacial-abnormalities musculoskeletal #11889465
ACSL4 300387 Microcephaly head circumference decreased musculoskeletal 11889465
ACSL4 300387 Nervous-system-diseases neurologic #11889465 #12525535
ACSL4 300387 Central-nervous-system-diseases neurologic #11889465
ACSL4 300387 Brain-diseases neurologic #11889465
ACSL4 300387 Cerebellar-atrophy MRI findings neurologic 11889465
ACSL4 300387 Neurologic-manifestations neurologic #11889465 #12525535
ACSL4 300387 Neurobehavioral-manifestations neurologic #11889465 #12525535
ACSL4 300387 Mental-retardation severe; nonspecific; low IQ; thought problems neurologic 11889465 12525535
ACSL4 300387 Developmental-delay language impairment; autonomy level impaired; speech delay neurologic 11889465
ACSL4 300387 Psychomotor-agitation attention deficit; hyperactivity; inability to concentrate neurologic 11889465 12525535
ACSL4 300387 Neuromuscular-manifestations neurologic #11889465
ACSL4 300387 Muscle-hypotonia hypotonia; neonatal hypotonia; infancy hypotonia neurologic 11889465
ACSL4 300387 Reflexes-abnormal neurologic #11889465
ACSL4 300387 Hyperreflexia reflexes increased neurologic 11889465
ACSL4 300387 Hyporeflexia reflexes decreased neurologic 11889465
ACSL4 300387 Eye-diseases ophthalmologic #11889465
ACSL4 300387 Blepharoptosis unilateral ptosis ophthalmologic 11889465
ACSL4 300387 Metabolic-diseases metabolic #12525535
ACSL4 300387 Metabolic-brain-diseases cognition related brain lipid metabolism disturbed; brain lipid metabolism abnormal metabolic 12525535
ACSL4 300387 Psychiatric-disorders psychiatric #11889465 #12525535
ACSL4 300387 Behavioral-symptoms internalising behavioural problems; severe social problems psychiatric 12525535
ACSL4 300387 Mental-disorders psychiatric #11889465 #12525535
ACSL4 300387 Anxiety-disorders anxiousness psychiatric 11889465
ACSL4 300387 Autistic-disorder autism; autistic like features psychiatric 11889465 12525535
ACSL4 300387 Mood-disorders psychiatric #11889465
ACSL4 300387 Depressive-disorder depression psychiatric 11889465

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