- DDX3ILA1 [Search on AGR]
Homo sapiens ASSOCIATED WITH Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
- FPASL [Search on AGR]
Homo sapiens ASSOCIATED WITH Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
- LINC03009 [Search on AGR]
Homo sapiens ASSOCIATED WITH Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB; INTERACTS WITH 2-palmitoylglycerol
- Aptr [Search on AGR]
Homo sapiens ASSOCIATED WITH Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB; INTERACTS WITH acrylamide; aristolochic acid A; benzo[a]pyrene
- Dnaaf9 [Search on AGR]
Homo sapiens This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
- Pacrg [Search on AGR]
Mus musculus PHENOTYPE: Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, tonic-clonic seizures, and reduced male fertility. [provided by MGI curators]
- mb [Search on AGR]
Rattus norvegicus Enables oxygen binding activity. Involved in several processes, including cellular response to nitric oxide; cold acclimation; and oxygen transport. Located in cytosol and mitochondrion. Used to study acute kidney failure. Biomarker of acute kidney failure; hyperthyroidism; hypothyroidism; iron deficiency anemia; and pulmonary hypertension. Orthologous to human MB (myoglobin); INTERACTS WITH (R,R,R)-alpha-tocopherol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
- comt [Search on AGR]
Homo sapiens Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
- Pgam2 [Search on AGR]
Homo sapiens Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]