KEGG VARIANT: 9342v1

VARIANT: 9342v1

Entry

9342v1                      Variant

Name

SNAP29 mutation

Type

Loss of function

Gene

SNAP29 synaptosome associated protein 29 [KO:K08509]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 604202

Network

nt06532 Autophagy

Disease

H00799

CEDNIK syndrome

Reference

PMID:21073448

Authors

Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E

Title

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

Journal

Br J Dermatol 164:610-6 (2011)
DOI:10.1111/j.1365-2133.2010.10133.x

Reference

PMID:31225470

Authors

Mastrodonato V, Morelli E, Vaccari T

Title

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health.

Journal

Cell Stress 2:72-81 (2018)
DOI:10.15698/cst2018.04.130

LinkDB

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