Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022716 (
Menkes
)
1,057
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The 5' region of
MNK
cDNAs has a 45 bp insert terminating at the 5'end with an AGATG sequence. The ATG in the sequence is in-frame with the ATG downstream identified by Vulpe et al (1993) as a translation start site for
MNK
mRNA. Inserts of 192 bp and 45 bp have been found in the 5' region of
MNK
mRNAs from BeWo cells, Caco-2 cells and normal human fibroblasts. Extensions to the 5' end of these mRNAs could foretell a modified N-termini in certain forms of the
Menkes
Cu-ATPase. These modified
H2N
-terminal extensions are postulated to be targeting signals for post-translational processing and cellular localization. In this report, we provide evidence that the primary
Menkes
transcript in non-
Menkes
cells undergoes post-transcriptional splicing that gives rise to multiple transcripts. The data suggest that the
Menkes
gene is a copper locus that codes for more than one form of the
Menkes
Cu-ATPase and one of these forms could be a small Cu transport protein.
...
PMID:Multiple forms of the Menkes Cu-ATPase. 1007 14
