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
AI463362 抗体
AI957237 抗体
bbs6 抗体
BBS6 抗体
Bbs6 抗体
DKFZp459L0833 抗体
hmcs 抗体
HMCS 抗体
kms 抗体
KMS 抗体
MKKS 抗体
mks 抗体
MKS 抗体
zgc:55608 抗体
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