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The official name of this gene is “inositol 1,4,5-trisphosphate receptor, type 1.”
ITPR1 is the gene's official symbol. The ITPR1 gene is also known by other names, listed below.
This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways.
NOTE: UniProt (ITPR1_HUMAN) (http://www.uniprot.org/uniprot/Q14643) suggests using caution when interpreting this information.
Spinocerebellar ataxia 15 (SCA15): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. The disease is caused by mutations affecting the gene represented in this entry.
Spinocerebellar ataxia 29 (SCA29): An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. The disease is caused by mutations affecting the gene represented in this entry.
|606658 (http://omim.org/entry/606658)||SPINOCEREBELLAR ATAXIA 15|
|117360 (http://omim.org/entry/117360)||SPINOCEREBELLAR ATAXIA 29|
|147265 (http://omim.org/entry/147265)||INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1|
Cytogenetic Location: 3p26.1
Molecular Location on chromosome 3: base pairs 4,493,348 to 4,847,840
The ITPR1 gene is located on the short (p) arm of chromosome 3 at position 26.1.
More precisely, the ITPR1 gene is located from base pair 4,493,348 to base pair 4,847,840 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ITPR1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
apoptosis ; ataxia ; atrophy ; autosomal ; autosomal dominant ; brainstem ; calcium ; cerebellum ; channel ; congenital ; dysarthria ; endoplasmic reticulum ; epithelial ; ER ; gait ; gene ; hypotonia ; imaging ; intracellular ; kinase ; motor ; nystagmus ; receptor ; secretion ; stress ; transcript ; tremor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.