STX4 Chromosome 16

Syntaxin 4
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in STX4.

What This Gene Does
Enables sphingomyelin phosphodiesterase activator activity. Involved in several processes, including cornified envelope assembly; positive regulation of immune effector process; and positive regulation of protein localization. Located in several cellular components, including basolateral plasma membrane; cytoplasmic vesicle; and lamellipodium. Part of SNARE complex. Is active in glutamatergic synapse and postsynapse. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000103496
Associated Conditions (3)
Sensorineural hearing loss disorder
Hearing loss
autosomal recessive 123
Key Variants
RS763815427
Pathogenic/Likely pathogenic
Sensorineural hearing loss disorder, Hearing loss, autosomal recessive 123
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS763815427 Health Risk Pathogenic/Likely pathogenic Sensorineural hearing loss disorder, Hearing loss, autosomal recessive 123
Sign Up to Analyze Your DNA Log In