Myosin VB

Alternative Names

MYO5B
KIAA1119

Length

372,359 bases

No. of Exons

No. of isoforms

Protein Name

Unconventional myosin-Vb

Molecular Mass

213672 Da

Amino Acid Count

1848

Genomic Location

chr18:49,822,789-50,195,147

Gene Map Locus

18q21.1

Description

The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001080467.3:c.1966C>T	United Arab Emirates	NC_000018.10:g.49936289G>A	Pathogenic	Likely Pathogenic	Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis	NG_012925.2:g.263793C>T; NM_001080467.3:c.1966C>T; NP_001073936.1:p.Arg656Cys	121908105	4251
NM_001080467.3:c.4844C>T	United Arab Emirates	NC_000018.10:g.49839152G>A		Uncertain Significance	Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis	NG_012925.2:g.360930C>T; NM_001080467.3:c.4844C>T; NP_001073936.1:p.Pro1615Leu	776975234

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External Links

https://medlineplus.gov/genetics/gene/myo5b/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=myo5b

Contributors

Asha Deepthi: 11.08.2022

Edit History

Asha Deepthi: 11.08.2022

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