Non-SMC Condensin I Complex Subunit D2

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  2. Non-SMC Condensin I Complex Subunit D2

Alternative Names

  • NCAPD2
  • Chromosome Condensation-Related SMC-Associated Protein 1
  • CNAP1
  • KIAA0159

Associated Diseases

Microcephaly 21, Primary, Autosomal Recessive
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OMIM Number

615638

NCBI Gene ID

9918

Uniprot ID

Q15021

Length

37,854 bases

No. of Exons

32

No. of isoforms

1

Protein Name

Condensin complex subunit 1

Molecular Mass

157182 Da

Amino Acid Count

1401

Genomic Location

chr12:6,494,102-6,531,955

Gene Map Locus
12p13.31

Description

Enables histone binding activity. Involved in mitotic chromosome condensation. Located in condensed chromosome; cytosol; and nucleoplasm. Part of condensin complex. Colocalizes with cytoplasm and nuclear chromosome. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014865.4:c.23T>CIraqNC_000012.12:g.6495121T>CLikely PathogenicMicrocephaly 21, Primary, Autosomal RecessiveNM_014865.4:c.23T>C; NP_055680.3:p.Phe8Ser
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=NCAPD2

Contributors

  • Sayeeda Hana: 17.10.2024

Edit History

  • Sayeeda Hana: 17.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.