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Overview |
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C5orf42
Defects in C5orf42 are the cause of Joubert syndrome type 17 (JBTS17). A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, multi-pass |
| Chromosomal Location of Human Ortholog: 5p13.2 |
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Disease: Joubert Syndrome 17; Orofaciodigital Syndrome Vi
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Reference #:
Q9H799
(UniProtKB)
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Alt. Names/Synonyms: C5orf42; CE042; chromosome 5 open reading frame 42; DKFZp686K02105; FLJ13231; FLJ21126; JBTS17; LOC65250
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Gene Symbols: C5orf42
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Molecular weight:
361,746 Da
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Basal Isoelectric point:
6.55
Predict pI for various phosphorylation states
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Select Structure to View Below |
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C5orf42
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