Statements (112)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:anatomy |
gptkb:Brain
liver |
| gptkbp:associated_with |
gptkb:muscular_dystrophy
gptkb:depression gptkb:neurodegenerative_diseases gptkb:X-linked_adrenoleukodystrophy anxiety cognitive decline adrenal insufficiency aggression schizophrenia seizures bipolar disorder prenatal testing hearing loss ataxia intellectual disability visual impairment genetic counseling newborn screening peripheral neuropathy behavioral changes social withdrawal mood disorders autism spectrum disorder dysphagia psychosis dysarthria carrier testing newborn screening programs X-linked inheritance hypotonia autonomic dysfunction autism spectrum disorders palliative care needs spasticity adrenal crisis developmental delay hyperactivity speech delay severe disability genetic counseling needs progressive neurological decline family planning considerations myelopathy gait disturbance long-chain fatty acid accumulation life expectancy reduction carrier testing availability motor delay cerebral demyelination peroxisomal biogenesis disorders peroxisomal dysfunction progressive loss of function |
| gptkbp:breeding_range |
Xq28
|
| gptkbp:clinical_trial |
ongoing
important for diagnosis mutations lead to neurological symptoms |
| gptkbp:code |
ATP-binding cassette sub-family D member 1
|
| gptkbp:discovered_by |
genetic research
|
| gptkbp:diseases |
gptkb:diabetes
gptkb:muscular_dystrophy gptkb:cerebral_adrenoleukodystrophy adrenomyeloneuropathy |
| gptkbp:disorder_type |
inherited disorder
|
| gptkbp:function |
involved in the transport of very long-chain fatty acids
transport of very long-chain fatty acids |
| gptkbp:gene_function |
involved in lipid metabolism
|
| gptkbp:gene_map |
available online
|
| gptkbp:gene_variants |
multiple known variants
|
| gptkbp:genetic_studies |
deletion
insertion point mutation frameshift mutation missense mutation recommended for family members nonsense mutation disruption of fatty acid metabolism causes X-linked adrenoleukodystrophy |
| https://www.w3.org/2000/01/rdf-schema#label |
ABCD1 gene
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:involved_in |
fatty acid metabolism
|
| gptkbp:is_expressed_in |
gptkb:Brain
testis |
| gptkbp:is_recognized_as |
1990s
|
| gptkbp:is_tested_for |
available
|
| gptkbp:located_in |
X chromosome
|
| gptkbp:location |
X chromosome
|
| gptkbp:nutritional_value |
fatty acid transport
ALDP |
| gptkbp:orthologs |
ABCD2 gene
ABCD3 gene |
| gptkbp:pathway |
peroxisomal fatty acid beta-oxidation
peroxisome biogenesis |
| gptkbp:prevalence |
rare disorder
|
| gptkbp:promoter |
ATP-binding cassette (ABC) transporters
ATP-binding cassette transporter family ABCD1 |
| gptkbp:publication |
numerous studies published
|
| gptkbp:related_to |
peroxisomal disorders
|
| gptkbp:research_focus |
gptkb:X-linked_adrenoleukodystrophy
|
| gptkbp:research_institutes |
various genetic research centers
|
| gptkbp:seed_dispersal |
protein-coding gene
|
| gptkbp:symptoms |
adrenal insufficiency
hearing loss neurological symptoms visual impairment behavioral issues |
| gptkbp:treatment |
gptkb:gene_therapy
hormone replacement therapy stem cell transplant |