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RefSeq: NM_001037343.1,
NP_001032420
LocusID:
6792
Cytogenetic:
Xp22
Summary: This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq].
Transcript Variant: This variant (II) differs in the 5' UTR compared to variant 1. Variants I and II encode the same protein.
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