Details of PCCA gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| PCCA | --- | P05165 | PCCA_HUMAN | 5095 | ENSG00000175198 | Propionyl-CoA carboxylase alpha chain, mitochondrial | SPROT |
Disease |
Disease |
OMIM id |
Propionic acidemia type I (PA-1) [MIM:606054]: Life- threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Note=The disease is caused by mutations affecting the gene represented in this entry. |
606054 |
Phenotypes
Abdominal symptom, Abnormal appendicular skeleton morphology, Abnormal bone structure, Abnormal glucose homeostasis, Abnormal immunoglobulin level, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of blood glucose concentration, Abnormality of body height, Abnormality of body weight, Abnormality of bone marrow cell morphology, Abnormality of bone mineral density, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of cell physiology, Abnormality of cellular immune system, Abnormality of central motor function, Abnormality of fluid regulation, Abnormality of glycine metabolism, Abnormality of granulocytes, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of limb bone morphology, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of mitochondrial metabolism, Abnormality of movement, Abnormality of muscle physiology, Abnormality of myeloid leukocytes, Abnormality of neutrophils, Abnormality of nitrogen compound homeostasis, Abnormality of pancreas physiology, Abnormality of pyramidal motor function, Abnormality of serine family amino acid metabolism, Abnormality of serum amino acid levels, Abnormality of skeletal morphology, Abnormality of skin physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the face, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the immune system, Abnormality of the integument, Abnormality of the lip, Abnormality of the liver, Abnormality of the mitochondrion, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the pancreas, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of thrombocytes, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormality of urine homeostasis, Abnormal muscle tone, Abnormal neutrophil cell number, Abnormal platelet count, Acidosis, Aciduria, Acute encephalopathy, All, Aminoaciduria, Aplasia/Hypoplasia involving the central nervous system, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal recessive inheritance, Azotemia, Cardiomyopathy, Cerebral atrophy, Cognitive impairment, Coma, Constipation, Decreased body weight, Dehydration, Dystonia, Eczema, Encephalopathy, Exaggerated cupid's bow, Failure to thrive, Functional respiratory abnormality, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Growth delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypertonia, Hypogammaglobulinemia, Hypoglycemia, IgG deficiency, Inflammatory abnormality of the skin, Intellectual disability, Intolerance to protein, Ketosis, Lactic acidosis, Lethargy, Limb hypertonia, Malformation of the heart and great vessels, Metabolic acidosis, Mitochondrial inheritance, Mitochondrial propionyl-CoA carboxylase (PCC) defect, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Muscular hypotonia of the trunk, Nausea and vomiting, Neutropenia, Osteoporosis, Pancreatitis, Pancytopenia, Phenotypic abnormality, Poor appetite, Propionicacidemia, Propionyl-CoA carboxylase deficiency, Reduced bone mineral density, Reduced consciousness/confusion, Seizures, Short stature, Tachypnea, Thrombocytopenia, Visceromegaly, Vomiting.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Pcca | --- | pcca-1 | Sp-Pcca |