Gene: YARS2

Alternate names for this Gene: CGI-04|MLASA2|MT-TYRRS|TYRRS

Gene Summary: This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2).

Gene is located in Chromosome: 12

Location in Chromosome : 12p11.21

Description of this Gene: tyrosyl-tRNA synthetase 2

Type of Gene: protein-coding

Gene: DNM1L

Alternate names for this Gene: DLP1|DRP1|DVLP|DYMPLE|EMPF|EMPF1|HDYNIV|OPA5

Gene Summary: This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12p11.21

Description of this Gene: dynamin 1 like

Type of Gene: protein-coding

rs863223953 in YARS2;DNM1L gene and Abnormality of the endocrine system PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Cerebellar atrophy PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs121908531 in YARS2;DNM1L gene and ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION PMID 26992161 2016 Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

PMID 27301544 2016 DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

PMID 27328748 2016 Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

PMID 29899447 2018 Structural basis of mitochondrial receptor binding and constriction by DRP1.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Generalized myoclonic seizures PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Generalized tonic-clonic seizures with focal onset PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and Multifocal epileptiform discharges PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and OPTIC ATROPHY 5 (disorder) PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and Profound intellectual disabilities PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and Seizures, Focal PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Status Epilepticus PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.