MYO9B Chromosome 19

Myosin IXB
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Myosin heavy chains, class IX
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000099331
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS201009683 Health Risk Conflicting classifications of pathogenicity
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