SRY-Box 9

Alternative Names

SOX9
SRY-Related HMG-Box Gene 9
XXSR
XYSR
Testis-Specific Enhancer Of Sox9, Included
Tes, Included
Testis-Specific Enhancer of SOX9 Core
TESCO
Regulatory Element, Enhancer, 13
ENH13

Length

5,397 bases

No. of Exons

No. of isoforms

Protein Name

Transcription factor SOX-9

Molecular Mass

56137 Da

Amino Acid Count

509

Genomic Location

chr17:72,121,019-72,126,415

Gene Map Locus

17q24.3

Description

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000346.3:c.507C>T	Lebanon	NC_000017.11:g.72122794C>T	Benign, Uncertain Significance	Benign		NG_012490.1:g.6775C>T; NM_000346.3:c.507C>T; NP_000337.1:p.His169=	2229989	21164
NM_000346.3:c.509C>T	Lebanon	NC_000017.11:g.72122796C>T	Pathogenic	Likely Pathogenic	Campomelic Dysplasia	NG_012490.1:g.6777C>T; NM_000346.3:c.509C>T; NP_000337.1:p.Pro170Leu	1131691554	429733

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External Links

https://medlineplus.gov/genetics/gene/sox9/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=sox9

Contributors

Pratibha Nair: 07.07.2021

Edit History

Pratibha Nair: 07.07.2021

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