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MT000153

Record overview

MITO ID	MT000153
Gene ID	1428
Species	Homo sapiens (Human)
Gene Name	crystallin, mu
Gene Symbol	CRYM
Synonyms	THBP; DFNA40;
Alternate names	ketimine reductase mu-crystallin; mu-crystallin homolog; thiomorpholine-carboxylate dehydrogenase; NADP-regulated thyroid-hormone binding protein;
Chromosome	16
Map Location	16p12.2
EC Number	1.5.1.25
Summary	Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
Orthologs	View orthologs and multiple alignments for CRYM

Proteins

ketimine reductase mu-crystallin

Refseq ID:	NP_001879
Protein GI:	4503065
UniProt ID:	Q14894
mRNA ID:	NM_001888
Length:	314
RefSeq Status:

`MSRVPAFLSAAEVEEHLRSSSLLIPPLETALANFSSGPEGGVMQPVRTVVPVTKHRGYLGVMPAYSAAEDALTTKLVTFYEDRGITSVVPSHQATVLLFE PSNGTLLAVMDGNVITAKRTAAVSAIATKFLKPPSSEVLCILGAGVQAYSHYEIFTEQFSFKEVRIWNRTKENAEKFADTVQGEVRVCSSVQEAVAGADV IITVTLATEPILFGEWVKPGAHINAVGASRPDWRELDDELMKEAVLYVDSQEAALKESGDVLLSGAEIFAELGEVIKGVKPAHCEKTTVFKSLGMAVEDT VAAKLIYDSWSSGK`