SPARC-Related Modular Calcium-Binding 1

Alternative Names

  • SMOC1
  • Secreted Modular Calcium-Binding Protein 1
Back to search Result
OMIM Number

608488

NCBI Gene ID

64093

Uniprot ID

Q9H4F8

Length

178,236 bases

No. of Exons

12

No. of isoforms

2

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001034852.2:c.910delLebanonNC_000014.9:g.70011537delPathogenicMicrophthalmia with Limb AnomaliesNG_028217.1:g.137141del; NM_001034852.2:c.910del; NP_001030024.1:p.Asp304MetfsTer60
NM_001034852.3:c.664+1G>ALebanonchr14:69994481PathogenicPathogenicMicrophthalmia with Limb AnomaliesNG_028217.1:g.120085G>A; NM_001034852.3:c664+1G>A86322331730727
© CAGS 2022. All rights reserved.