MBNL1

muscleblind like splicing regulator 1

2 disorders 1 no genetic record 1 modifier 3q25.1-q25.2 gene with protein product

HGNC:6923 Monarch NCBI Gene 4154 ENSG00000152601 UniProt Q9NR56 OMIM 606516

Previous symbols: MBNL. Aliases: KIAA0428, EXP42, EXP40, EXP35, EXP.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Spinocerebellar Ataxia Type 8	modifier
Huntington disease-like 2	no genetic record	mechanism: Toxic JPH3 repeat RNA accumulation

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.