CRYM
| CRYM | |||
|---|---|---|---|
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 16: 21.24 – 21.3 Mb | Chr 7: 119.79 – 119.8 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Mu-crystallin homolog also known as NADP-regulated thyroid-hormone-binding protein (THBP) is a protein that in humans is encoded by the CRYM gene. Multiple alternatively spliced transcript variants have been found for this gene.[5][6]
Function
Its enzyme function has been determined as a
Besides its role in lens biology, CRYM seems also to be involved in thyroid hormone signalling in other tissues. It could be demonstrated that CRYM mutations may cause deafness through thyroid hormone binding effects on the fibrocytes of the cochlea.[8] Disruption of the CRYM gene leads to decreased T3 concentrations in both tissues and serum without alteration of peripheral T3 action in vivo.[9][10]
The existence of intracellular thyroid hormone binding proteins has been postulated from mathematical modelling of
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000103316 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030905 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 1478656.
- ^ a b "Entrez Gene: CRYM crystallin, mu".
- S2CID 2081522.
- PMID 16740909.
- PMID 12471561.
- PMID 17264173.
- ISBN 3-89722-850-5.
- S2CID 13421388.
External links
- Human CRYM genome location and CRYM gene details page in the UCSC Genome Browser.
Further reading
- Kim RY, Gasser R, Wistow GJ (1992). "mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina". Proc. Natl. Acad. Sci. U.S.A. 89 (19): 9292–6. PMID 1384048.
- Vié MP, Blanchet P, Samson M, et al. (1996). "High affinity thyroid hormone-binding protein in human kidney: kinetic characterization and identification by photoaffinity labeling". Endocrinology. 137 (11): 4563–70. PMID 8895318.
- Segovia L, Horwitz J, Gasser R, Wistow G (1998). "Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas". Mol. Vis. 3: 9. PMID 9285773.
- Vié MP, Evrard C, Osty J, et al. (1998). "Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein". Mol. Endocrinol. 11 (11): 1728–36. PMID 9328354.
- Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. PMID 10493829.
- Abe S, Katagiri T, Saito-Hisaminato A, et al. (2003). "Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues". Am. J. Hum. Genet. 72 (1): 73–82. PMID 12471561.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Reed PW, Corse AM, Porter NC, et al. (2007). "Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy". Exp. Neurol. 205 (2): 583–6. S2CID 32811393.
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