MKKS Gene

Alternative Names

MKKS
MKS
BBS6 Gene
BBS6

Length

33,231 bases

No. of Exons

No. of isoforms

Protein Name

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Molecular Mass

62342 Da

Amino Acid Count

570

Genomic Location

chr20:10,401,009-10,434,239

Gene Map Locus

20p12.2

Description

MKKS gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_018848.3:c.1436C>G	Tunisia	NC_000020.11:g.10405524G>C	Pathogenic	Uncertain Significance	Bardet-Biedl syndrome 6	NG_009109.2:g.33695C>G; NM_018848.3:c.1436C>G; NP_061336.1:p.Ser479Ter	753180214	1297700
NM_018848.3:c.1549C>T	Tunisia	NC_000020.11:g.10405411G>A	Benign	Uncertain Significance	Bardet-Biedl syndrome 6	NG_009109.2:g.33808C>T; NM_018848.3:c.1549C>T; NP_061336.1:p.Arg517Cys	1547	95922
NM_018848.3:c.1595G>T	Tunisia	NC_000020.11:g.10405365C>A	Benign	Uncertain Significance	Bardet-Biedl syndrome 6	NG_009109.2:g.33854G>T; NM_018848.3:c.1595G>T; NP_061336.1:p.Gly532Val	1545	95923
NM_170784.3:c.116C>T	Saudi Arabia	NC_000020.11:g.10413399G>A	Pathogenic	Likely Pathogenic, Pathogenic	Bardet-Biedl syndrome 6	NG_009109.2:g.25820C>T; NM_170784.3:c.116C>T; NP_061336.1:p.Pro39Leu	1270369106	800851
NM_170784.3:c.1646T>C	Saudi Arabia	NC_000020.11:g.10405314A>G		Likely Pathogenic	Bardet-Biedl syndrome 6	NG_009109.2:g.33905T>C; NM_170784.3:c.1646T>C; NP_740754.1:p.Leu549Pro
NM_170784.3:c.295T>C	Saudi Arabia	NC_000020.11:g.10413220A>G	Likely Pathogenic	Likely Pathogenic	Retinitis Pigmentosa	NG_009109.3:g.26002T>C; NM_170784.3:c.295T>C; NP_740754.1:p.Cys99Arg	1297985227	585166
NM_170784.3:c.871G>T	Saudi Arabia	NC_000020.11:g.10412644C>A		Pathogenic	Bardet-Biedl syndrome 6	NG_009109.2:g.26575G>T; NM_170784.3:c.871G>T; NP_740754.1:p.Val291Phe	910468710

Download Table

External Links

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

Edit History

Sayeeda Hana: 20.07.2022
Asha Deepthi: 26.04.2020

Back to search Result