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SYP synaptophysin

Also known as: MRX96; MRXSYP


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

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

Chromosome: X; NC_000023.11 (49187812..49200202, complement)
Total number of exons:


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