Chromosome 12 Open Reading Frame 57

Alternative Names

  • C12orf57
  • C10

Associated Diseases

Temtamy Syndrome
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OMIM Number

615140

NCBI Gene ID

113246

Uniprot ID

Q99622

Length

2,571 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Protein C10

Molecular Mass

13178 Da

Amino Acid Count

126

Genomic Location

chr12:6,943,432-6,946,002

Gene Map Locus
12p13.31

Description

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene [From RefSeq].

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001301834.1:c.1A>GKuwait; Libya; Palesti...NC_000012.12:g.6944122A>GLikely Pathogenic,PathogenicTemtamy SyndromeNG_034262.1:g.5306A>G ; NM_001301834.1:c.1A>G; NP_001288763.1:p.Met1?58777695441942
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