MKKS 抗体
(McKusick-Kaufman Syndrome (MKKS))
This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012].
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Latest Publications for our MKKS 抗体
: "Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. ..." in: The Journal of clinical investigation, Vol. 122, Issue 4, pp. 1233-45, (2012) (PubMed).Aliases for MKKS 抗体
McKusick-Kaufman syndrome (Mkks) 抗体McKusick-Kaufman syndrome (mkks) 抗体
McKusick-Kaufman syndrome (MKKS) 抗体
1300013E18Rik 抗体
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bbs6 抗体
BBS6 抗体
Bbs6 抗体
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kms 抗体
KMS 抗体
MKKS 抗体
mks 抗体
MKS 抗体
zgc:55608 抗体
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