|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “synuclein, alpha interacting protein.”
SNCAIP is the gene's official symbol. The SNCAIP gene is also known by other names, listed below.
This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1.
|168600 (http://omim.org/entry/168600)||PARKINSON DISEASE, LATE-ONSET|
|603779 (http://omim.org/entry/603779)||SYNUCLEIN-ALPHA-INTERACTING PROTEIN|
Cytogenetic Location: 5q23.2
Molecular Location on chromosome 5: base pairs 122,311,348 to 122,464,098
The SNCAIP gene is located on the long (q) arm of chromosome 5 at position 23.2.
More precisely, the SNCAIP gene is located from base pair 122,311,348 to base pair 122,464,098 on chromosome 5.
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 SNCAIP 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.
alternative splicing ; ATP ; atypical ; bradykinesia ; degradation ; dementia ; domain ; etiology ; familial ; family history ; gene ; GTP ; Lewy bodies ; ligase ; motif ; mutation ; protein ; splicing ; sporadic ; substantia nigra ; susceptibility ; tissue ; transcript ; tremor ; ubiquitin
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.