Gene: ACTL6B

Alternate names for this Gene: ACTL6|BAF53B|EIEE76|IDDSSAD|arpNalpha

Gene Summary: The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: actin like 6B

Type of Gene: protein-coding

Gene: TFR2

Alternate names for this Gene: HFE3|TFRC2

Gene Summary: This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: transferrin receptor 2

Type of Gene: protein-coding

rs1562846694 in ACTL6B;TFR2 gene and Abnormal CNS myelination PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Abnormal timing of pattern reversal visual evoked potentials PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Bilateral ptosis PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Breath-holding spell PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Bulbous nose PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Byzanthine arch palate PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Cerebellar vermis hypoplasia PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1052897 in ACTL6B;TFR2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1562846694 in ACTL6B;TFR2 gene and Downturned corners of mouth PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Dystonia, Limb PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and EEG with generalized epileptiform discharges PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Extrapyramidal sign PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Focal T2 hyperintense brainstem lesion PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Frontal bossing PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Generalized limb muscle atrophy PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Global developmental delay PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Hypoplasia of corpus callosum PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Impaired smooth pursuit PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Macrotia PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Midfrontal capillary hemangioma PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Misalignment of teeth PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Multifocal epileptiform discharges PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Muscle Weakness PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Muscular hypotonia of the trunk PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Neurodevelopmental delay PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Open mouth (finding) PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Pediatric failure to thrive PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Poor eye contact PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Seizures PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Strabismus PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Sunken eyes PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Upper limb spasticity PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs1562846694 in ACTL6B;TFR2 gene and Widened subarachnoid space PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.