NCKAP1L

Chr 12AR

NCK associated protein 1 like

Also known as: HEM1, IMD72

This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 72 with autoinflammationMIM #618982
AR

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency 72 with autoinflammation · ARModerateconsider for supplementary testing
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NCKAP1L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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