GPANK1

Chr 6

G-patch domain and ankyrin repeats 1

Also known as: ANKRD59, BAT4, D6S54E, G5, GPATCH10

NCBI Gene: 7918 ENSG00000204438 UniProt: O95872

The GPANK1 protein is thought to function in immunity and is located within the major histocompatibility complex III region. Mutations cause autosomal recessive spastic paraplegia with intellectual disability, seizures, and progressive neurodegeneration typically beginning in early childhood. The gene is not highly constrained against loss-of-function variation.

ResearchSummary from RefSeq

This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.40

LOEUF

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Mechanism

Some data sources returned errors (1)