SYTL4

Chr X

synaptotagmin like 4

Also known as: SLP4

NCBI Gene: 94121 ENSG00000102362 UniProt: Q96C24 OMIM: 300723

The protein modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and pituitary through its interaction with Rab27 and membrane trafficking pathways. Mutations cause autosomal recessive arthrogryposis, a congenital condition characterized by joint contractures present at birth. The gene is not highly constrained against loss-of-function variants, consistent with recessive inheritance requiring biallelic mutations to cause disease.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.57

LOEUF

Multiple*

Mechanism· predicted