Protocadherin 15

Alternative Names

  • PCDH15
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OMIM Number

605514

NCBI Gene ID

65217

Uniprot ID

Q96QU1

Length

1,825,172 bases

No. of Exons

49

No. of isoforms

5

Protein Name

Protocadherin-15

Molecular Mass

216069 Da

Amino Acid Count

1955

Genomic Location

chr10:53,802,770-55,629,181

Gene Map Locus
10q21.1

Description

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001142763.2:c.2376TGT[2]United Arab EmiratesNC_000010.11:g.54023050CAA[2]Pathogenic, Uncertain SignificanceLikely PathogenicDeafness, Autosomal Recessive 23NG_009191.3:g.1611126TGT[2]; NM_001142763.2:c.2376TGT[2]; NP_001341359.1:p.Val790del483352837126521
NM_001384140.1:c.2367_2369delUnited Arab EmiratesNC_000010.11:g.54023056_54023058delPathogenic, Uncertain SignificanceNG_009191.3:g.1611132_1611134del; NM_001384140.1:c.2367_2369del; NP_001371069.1:p.Val790del126521
NM_033056.4:c.3717+1G>ASaudi Arabiachr10:53866641Likely PathogenicLikely PathogenicUsher Syndrome, Type IFNG_009191.3:g.1767542G>A; NM_033056.4:c.3717+1G>A748706627189083
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