Microcephalin 1

Alternative Names

  • Mcph1
  • Mcph1 Gene
  • Microcephalin
  • Brct-Repeat Inhibitor Of Tert Expression 1
  • Brit1
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OMIM Number

607117

NCBI Gene ID

79648

Uniprot ID

Q8NEM0

Length

241,894 bases

No. of Exons

23

No. of isoforms

3

Protein Name

Microcephalin

Molecular Mass

92849 Da

Amino Acid Count

835

Genomic Location

chr8:6,406,614-6,648,507

Gene Map Locus
8p23.1

Description

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001172574.1:c.1349A>CUnited Arab EmiratesNC_000008.11:g.6445071A>CBenign, Likely Benign, Uncertain SignificancePathogenicMicrocephaly, Primary Autosomal Recessive, 1NG_016619.2:g.43480A>C; NM_001172574.1:c.1349A>C; NP_001166045.1:p.Lys450Thr77959215499746
NM_024596.4:c.1_114delSaudi ArabiaNC_000008.11:g.6406668_6409370delPathogenicMicrocephaly, Primary Autosomal Recessive, 1NM_024596.4:c.1_114del; NP_078872.2:p.Met1?
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