Transient Receptor Potential Cation Channel, Subfamily M, Member 4

Alternative Names

  • TRPM4
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OMIM Number

606936

NCBI Gene ID

54795

Uniprot ID

Q8TD43

Length

54,101 bases

No. of Exons

25

No. of isoforms

3

Protein Name

Transient receptor potential cation channel subfamily M member 4

Molecular Mass

134301 Da

Amino Acid Count

1214

Genomic Location

chr19:49,157,741-49,211,841

Gene Map Locus
19q13.33

Description

The PRPM4 gene codes for a channel protein that plays a major role in controlling the flow of cations, especially in cardiac cells. They thus are imprtant for initiating and maintaining the heart beat. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017636.3:c.1294G>ALebanonNC_000019.10:g.49182608G>ALikely Benign, Uncertain SignificancePathogenicProgressive Familial Heart Block, Type IBNG_027551.1:g.29850G>A; NM_017636.3:c.1294G>A; NP_060106.2:p.Ala432Thr20190732535487
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