Dataset Information

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome.

ABSTRACT: Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K⁺ channels, have been identified in subjects with ZLS and ZLS-like phenotype, respectively. We report de novo missense variants in KCNN3 in three individuals with typical clinical features of ZLS. KCNN3 (SK3/KCa2.3) constitutes one of three members of the small-conductance Ca²⁺-activated K⁺ (SK) channels that are part of a multiprotein complex consisting of the pore-forming channel subunits, the constitutively bound Ca²⁺ sensor calmodulin, protein kinase CK2, and protein phosphatase 2A.

SUBMITTER: Bauer CK

PROVIDER: S-EPMC6562147 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Dataset Information

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome.

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Dataset Information

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome.