Cysteine-and-Glycine-Rich Protein 1

Alternative Names

  • CSRP1
  • Cysteine-Rich Protein 1
  • CRP1
  • Cysteine-Rich Protein
  • CSRP
  • CRP
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OMIM Number

123876

NCBI Gene ID

1465

Uniprot ID

P21291

Length

25,927 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Cysteine and glycine-rich protein 1

Molecular Mass

20567 Da

Amino Acid Count

193

Genomic Location

chr1:201,483,530-201,509,456

Gene Map Locus
1q32.1

Description

This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004078.3:c.447_460dupLebanonchr1:201485341_201485328Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedNC_000001.11:g.201485341_201485328dup; NM_004078.3:c.447_460dup; NP_001180500.1:p.Glu154Valfs*99
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