UCSCGeneAnnotation:hg18-10225

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Revision as of 20:09, 22 October 2010 by Jdcody (talk | contribs) (New page: Category:Genome Annotation Canonical gene details [http://genome.cse.ucsc.edu/cgi-bin/hgGene?hgg_chrom=none&org=Human&db=0&hgg_gene=uc002lnh.1 CTDP1 uc002lnh.1]<BR> Other loci: [http:/...)
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Canonical gene details CTDP1 uc002lnh.1
Other loci: uc010drd.1, uc002lni.1,
Description: CTD (carboxy-terminal domain, RNA polymerase II,
RefSeq Summary (NM_048368): This gene encodes a protein which interacts with the carboxy-terminus of transcription initiation factor TFIIF, a transcription factor which regulates elongation as well as initiation by RNA polymerase II. The protein may also represent a component of an RNA polymerase II holoenzyme complex. Alternative splicing of this gene results in two transcript variants encoding 2 different isoforms. [provided by RefSeq].

(description snapshot 20:09, 22 October 2010 (UTC))
Alternate Gene Symbols: FCP1, NM_048368, NP_430255, Q9Y5B0-2

created: Jdcody 20:09, 22 October 2010 (UTC) uc002lni.1

Gene Dosage: Causes congenital cataracts, facial dysmorphism and neuropathy by a recessive mechanism (OMIM:604168). However, hemizygosity was implicated in autism (PMID: 20531469)

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