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SYP synaptophysin

Also known as: MRX96; MRXSYP

Summary

This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Mental retardation, X-linked 96
MedGen: C2749021OMIM: 300802GeneReviews: Not available
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Genomic context

Location:
Xp11.23-p11.22
Sequence:
Chromosome: X; NC_000023.11 (49187812..49200202, complement)
Total number of exons:
7

Links

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