SPARC-Related Modular Calcium-Binding 1

Alternative Names

SMOC1
Secreted Modular Calcium-Binding Protein 1

Length

178,236 bases

No. of Exons

No. of isoforms

Protein Name

SPARC-related modular calcium-binding protein 1

Molecular Mass

48163 Da

Amino Acid Count

434

Genomic Location

chr14:69,854,131-70,032,366

Gene Map Locus

14q24.2

Description

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001034852.2:c.910del	Lebanon	NC_000014.9:g.70011537del		Pathogenic	Microphthalmia with Limb Anomalies	NG_028217.1:g.137141del; NM_001034852.2:c.910del; NP_001030024.1:p.Asp304MetfsTer60
NM_001034852.3:c.664+1G>A	Lebanon	chr14:69994481	Pathogenic	Pathogenic	Microphthalmia with Limb Anomalies	NG_028217.1:g.120085G>A; NM_001034852.3:c664+1G>A	863223317	30727

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External Links

https://ghr.nlm.nih.gov/gene/SMOC1 https://medlineplus.gov/genetics/gene/smoc1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMOC1 https://www.ncbi.nlm.nih.gov/gene/64093

Contributors

Pratibha Nair: 06.07.2021
Pratibha Nair: 01.07.2020

Edit History

Pratibha Nair: 06.07.2021
Sayeeda Hana: 19.06.2021
Pratibha Nair: 01.07.2020

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