ANKRD30A

Chr 10

ankyrin repeat domain 30A

Also known as: NY-BR-1

NCBI Gene: 91074 ENSG00000148513 UniProt: Q9BXX3 OMIM: 610856

This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and testis. The gene shows very low constraint against loss-of-function variants (pLI near zero), and no pediatric neurological disorders have been definitively associated with ANKRD30A mutations to date. Current evidence suggests this gene may be primarily relevant to breast cancer rather than neurogenetic conditions.

OMIM ResearchSummary from RefSeq

This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.26

LOEUF

Multiple*

Mechanism· predicted