NK6 Homeobox 2

Alternative Names

NKX6-2
NK6, Drosophila, Homolog Of, 2
Homeobox 6B, NK
Nk Homeobox, Family 6, Member B
NKX6B
NKX6.2, Mouse, Homolog Of

Length

3,919 bases

No. of Exons

Protein Name

Homeobox protein Nkx-6.2

Molecular Mass

29263 Da

Amino Acid Count

277

Genomic Location

chr10:132,782,228-132,786,146

Gene Map Locus

10q26.3

Description

NKX6-2 gene encodes homeobox protein Nkx-6.2, which is a transcription factor involved in the development of oligodendrocytes. It also plays a key role in the regulation of axon-glial interactions in oligodendrocyte myelin paranodes.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_177400.3:c.196del	Kuwait; Saudi Arabia	NC_000010.11:g.132785754del	Likely Pathogenic	Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	NM_177400.3:c.196del; NP_796374.1:p.Arg66GlyfsTer122	1554961118	503871
NM_177400.3:c.487C>G	Oman; Saudi Arabia	NC_000010.11:g.132785372G>C	Pathogenic	Likely Pathogenic, Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	NM_177400.3:c.487C>G; NP_796374.1:p.Leu163Val	1131692048	430623
NM_177400.3:c.608G>A	United Arab Emirates	NC_000010.11:g.132785142C>T	Likely Pathogenic	Likely Pathogenic	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy	NM_177400.3:c.608G>A; NP_796374.2:p.Trp203Ter	1565019928	627619

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=nkx6-2

Contributors

Asha Deepthi: 26.10.2022
Asha Deepthi: 27.04.2021

Edit History

Asha Deepthi: 26.10.2022
Asha Deepthi: 27.04.2021

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