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.