SNAP29 Chromosome 22
Synaptosome associated protein 29
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What This Gene Does
This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SNAREs
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000099940
Associated Conditions (4)
CEDNIK syndrome
SNAP29-related disorder
Inborn genetic diseases
Hypomyelinating leukodystrophy 2
Key Variants
RS1397535065
Conflicting classifications of pathogenicity
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS141934766
Conflicting classifications of pathogenicity
SNAP29-related disorder, SNAP29-related disorder
Health Risk
RS199538534
Conflicting classifications of pathogenicity
CEDNIK syndrome, Inborn genetic diseases, CEDNIK syndrome
Health Risk
RS370326257
Conflicting classifications of pathogenicity
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS373576052
Conflicting classifications of pathogenicity
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS528593119
Conflicting classifications of pathogenicity
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS770234475
Conflicting classifications of pathogenicity
CEDNIK syndrome, Inborn genetic diseases, CEDNIK syndrome
Health Risk
RS770386845
Conflicting classifications of pathogenicity
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS909351177
Conflicting classifications of pathogenicity
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS1064795236
Likely pathogenic
CEDNIK syndrome, CEDNIK syndrome
Health Risk
RS1157097082
Likely pathogenic
Health Risk
RS1928558096
Likely pathogenic
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1397535065 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, CEDNIK syndrome |
| RS141934766 | Health Risk | Conflicting classifications of pathogenicity | SNAP29-related disorder, SNAP29-related disorder |
| RS199538534 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, Inborn genetic diseases, CEDNIK syndrome |
| RS370326257 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, CEDNIK syndrome |
| RS373576052 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, CEDNIK syndrome |
| RS528593119 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, CEDNIK syndrome |
| RS770234475 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, Inborn genetic diseases, CEDNIK syndrome |
| RS770386845 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, CEDNIK syndrome |
| RS909351177 | Health Risk | Conflicting classifications of pathogenicity | CEDNIK syndrome, CEDNIK syndrome |
| RS1064795236 | Health Risk | Likely pathogenic | CEDNIK syndrome, CEDNIK syndrome |
| RS1157097082 | Health Risk | Likely pathogenic | — |
| RS1928558096 | Health Risk | Likely pathogenic | — |
| RS2518511727 | Health Risk | Likely pathogenic | — |
| RS775445020 | Health Risk | Likely pathogenic | CEDNIK syndrome, CEDNIK syndrome |
| RS1176301490 | Health Risk | Pathogenic | — |
| RS1313497913 | Health Risk | Pathogenic | — |
| RS1315355162 | Health Risk | Pathogenic | — |
| RS1405780453 | Health Risk | Pathogenic | — |
| RS2518502640 | Health Risk | Pathogenic | — |
| RS2518503103 | Health Risk | Pathogenic | — |
| RS2518511737 | Health Risk | Pathogenic | — |
| RS2518518071 | Health Risk | Pathogenic | — |
| RS387907363 | Health Risk | Pathogenic | CEDNIK syndrome, CEDNIK syndrome |
| RS749633059 | Health Risk | Pathogenic | — |
| RS759792044 | Health Risk | Pathogenic | — |
| RS1928559435 | Health Risk | Pathogenic/Likely pathogenic | CEDNIK syndrome, CEDNIK syndrome |
| RS751575036 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 2, CEDNIK syndrome, Inborn genetic diseases |
| RS869312906 | Health Risk | Pathogenic/Likely pathogenic | CEDNIK syndrome, CEDNIK syndrome |
| RS886041240 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 2, CEDNIK syndrome, Hypomyelinating leukodystrophy 2 |