| WDR45 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | WDR45 , NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4, JM5, WD repeat domain 45 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300526 MGI: 1859606 HomoloGene: 48498 GeneCards: WDR45 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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WD repeat domain phosphoinositide-interacting protein 4 (WIPI-4) is a protein that in humans is encoded by the WDR45 gene. [5] [6] Mutations in this gene cause a distinct form of Neurodegeneration with brain iron accumulation (NBIA) called Beta-propeller protein-associated neurodegeneration (BPAN). [7]
WIPI-4 is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation.
This gene WDR45 has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [6]
De novo loss of function mutations in WDR45 were identified by exome sequencing in 20 patients with progressive neurodegeneration and evidence of iron on brain MRI scans. [7] The mutations cause an X-linked dominant form of NBIA now called Beta-propeller protein-associated neurodegeneration (BPAN). [7] A name for the disease before the gene was identified was called static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), though this term is no longer used. There are no current treatments for BPAN, though medications and therapies can be used to treat symptoms. [8]
Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.
WD repeat-containing protein 8 is a protein that in humans is encoded by the WDR8 gene.
WD repeat and SOCS box-containing protein 1 is a protein that in humans is encoded by the WSB1 gene.
Bifunctional coenzyme A synthase is an enzyme that in mammals is encoded by the COASY gene that catalyses the synthesis of coenzyme A from 4'-phosphopantetheine.
Translocon-associated protein subunit beta also known as TRAP-beta is a protein that in humans is encoded by the SSR2 gene.
Leucine-rich repeat serine/threonine-protein kinase 1 is an enzyme that in humans is encoded by the LRRK1 gene.
Coronin-1C is a protein that in humans is encoded by the CORO1C gene.
WD repeat domain phosphoinositide-interacting protein 2 is a protein that in humans is encoded by the WIPI2 gene.
WD repeat-containing protein 1 is a protein that in humans is encoded by the WDR1 gene.
Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.
Beta-catenin-like protein 1 is a protein that in humans is encoded by the CTNNBL1 gene.
WD40 repeat-containing protein SMU1 is a protein that in humans is encoded by the SMU1 gene.
WD repeat-containing protein 6 is a protein that in humans is encoded by the WDR6 gene.
WD repeat-containing protein 26 is a protein that in humans is encoded by the WDR26 gene.
WD repeat domain phosphoinositide-interacting protein 1 (WIPI-1), also known as Atg18 protein homolog (ATG18) and WD40 repeat protein interacting with phosphoinositides of 49 kDa, is a protein that in humans is encoded by the WIPI1 gene.
WD repeat domain phosphoinositide-interacting protein 3 (WIPI-3), also known as WD repeat-containing protein 45-like is a protein that in humans is encoded by the gene.
Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative diseases, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities. Some of the NBIA disorders have also been associated with several genes in synapse and lipid metabolism related pathways. NBIA is not one disease but an entire group of disorders, characterized by an accumulation of brain iron, sometimes in the presence of axonal spheroids in the central nervous system.
WD repeat domain 47 is a protein that in humans is encoded by the WDR47 gene.
This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration.
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