POU5F1B

Chr 8

POU class 5 homeobox 1B

Also known as: OCT4-PG1, OCT4PG1, OTF3C, OTF3P1, POU5F1P1, POU5F1P4, POU5FLC20, POU5FLC8

NCBI Gene: 5462 ENSG00000212993 UniProt: Q06416

POU5F1B encodes a transcription factor with weak transcriptional activator activity that may function in eye development. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly and simplified gyral pattern, typically presenting in infancy. The gene is not highly constrained against loss-of-function variants, which is consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.85

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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