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| Aliases | SACS , ARDNAJC29, PPP1R138, SPAX6, sacsin molecular chaperone | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604490 HomoloGene: 8653 GeneCards: SACS | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the SACS gene. [3] [4] Sacsin is a Hsp70 co-chaperone. [5]
This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. This modular protein is essential for normal mitochondrial network organization. [6] The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. [4]
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that results from mutations in the gene that produces Sacsin. Afflicted persons suffer from loss of balance, loss of muscle control and spasticity. [7]
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Aprataxin is a protein that in humans is encoded by the APTX gene.
Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.
Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene located in the long arm of chromosome 10 (10q24.31).
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.
Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.
Megalencephalic leukoencephalopathy with subcortical cysts is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargement of the head (macrocephaly) as well as delayed-onset neurological deterioration to include spasticity, epilepsy, and lack of muscular coordination. MLC does not appear to be a disease that is fatal at birth or early in life despite its symptoms, although the number of patients throughout history known to have the disease is fairly limited.
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.
Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.
The TH gene codes for the enzyme tyrosine hydroxylase.
Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region. This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, France and Spain. The prevalence has been estimated at 1 in 1,900 in Quebec, but it is very rare elsewhere.
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy is a rare progressive genetic disorder that primarily affects the nervous system and is characterized by sensorineural hearing loss, narcolepsy with cataplexy, and dementia later in life. People with this disorder usually start showing symptoms when they are in their early-mid adulthoods. It is a type of autosomal dominant cerebellar ataxia.
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, also known as SANDO syndrome, is a very rare genetic disorder which is characterized by ocular and nerve anomalies.
Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a gene] originally dubbed AXPC1 which was identified as a mutation in the FLCVR1 gene. Generally rare, a Pennsylvania Mennonite variant has been estimated to have a population allele prevalence close to 1% due to founder effects.
A Heme transporter is a protein which delivers heme to the various parts of a biological cell that require it. Heme is a major source of dietary iron in humans and other mammals, and its synthesis in the body is well understood, however heme pathways are not as well understood. It is likely that heme is tightly regulated for two reasons: the toxic nature of iron in cells, and the lack of a regulated excretory system for excess iron. Understanding heme pathways is therefore important in understanding diseases such as hemachromatosis and anemia.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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