Cadherin-Related Family, Member 1

Alternative Names

CDHR1
Protocadherin 21
PCDH21
Photoreceptor Cadherin
PRCAD

Length

25,085 bases

No. of Exons

No. of isoforms

Protein Name

Cadherin-related family member 1

Molecular Mass

93595 Da

Amino Acid Count

859

Genomic Location

chr10:84,194,537-84,219,621

Gene Map Locus

10q23.1

Description

This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_033100.4:c.338del	Palestine	chr10:84197826	Pathogenic	Pathogenic	Cone-Rod Dystrophy 15	NG_028034.1:g.8171del; NM_033100.4:c.338del; NP_149091.1:p.Gly113fs	747425652	37292
NM_033100.4:c.420T>A	Lebanon	chr10:84199103		Likely Pathogenic	Cone-Rod Dystrophy 15	NG_028034.1:g.9448T>A; NM_033100.4:c.420T>A; NP_149091.1:p.Tyr140*

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1 https://www.ncbi.nlm.nih.gov/gene?term=92211

Contributors

Pratibha Nair: 14.04.2020

Edit History

Pratibha Nair: 14.04.2020

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