UCSCGeneAnnotation:hg18-10225

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

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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)