NK6 Homeobox 1

Alternative Names

  • NKX6-1
  • NK6, Drosophila, Homolog of, 1
  • NKX6.1
  • NK Homeobox, Family 6, Member A
  • Homeobox 6A, NK
  • NKX6A

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

602563

NCBI Gene ID

4825

Uniprot ID

P78426

Length

7,308 bases

No. of Exons

3

Protein Name

Homeobox protein Nkx-6.1

Molecular Mass

37849 Da

Amino Acid Count

367

Genomic Location

chr4:84,491,985-84,499,292

Gene Map Locus
4q21.23

Description

In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes. [From OMIM]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006168.3:c.155C>TQatarNC_000004.12:g.84498074G>AUncertain SignificanceType 2 Diabetes MellitusNM_006168.3:c.155C>T; NP_006159.2:p.Ser52Phe1720864004
NM_006168.3:c.84G>CQatarNC_000004.12:g.84498145C>GUncertain SignificanceType 2 Diabetes MellitusNM_006168.3:c.84G>C; NP_006159.2:p.Met28Ile369821275
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