MOB1B

Chr 4

MOB kinase activator 1B

Also known as: MATS2, MOB4A, MOBKL1A

NCBI Gene: 92597 ENSG00000173542 UniProt: Q7L9L4 OMIM: 609282

This protein activates LATS1/2 kinases in the Hippo signaling pathway, which controls organ size and restricts cell proliferation by phosphorylating and inactivating YAP1 and TAZ oncoproteins. Mutations in MOB1B cause autosomal recessive primary microcephaly with developmental delay and intellectual disability. The gene shows tolerance to loss-of-function variation (pLI 0.04, LOEUF 0.88), with clinical features primarily affecting brain development and growth.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

Multiple*

Mechanism· predicted