CRYM - crystallin mu Gene

Homo sapiens

Also known as THBP; DFNA40

Gene ID: 1428 | Gene type: protein coding

About CRYM

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:21,258,521-21,303,062 (from NCBI)

This gene has 10 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Biased expression in heart (RPKM 46.6), brain (RPKM 32.2) and 9 other tissues.

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]

CRYM Products(2)

mRNA	Protein	Name
NM_001376256.1	NP_001363185.1	ketimine reductase mu-crystallin
NM_001888.5	NP_001879.1	ketimine reductase mu-crystallin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables NADP binding	IDA IDA: Inferred from direct assay	17242435	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	12590647	GOA
enables thiomorpholine-carboxylate dehydrogenase activity	IDA IDA: Inferred from direct assay	21332720	GOA
enables thyroid hormone binding	IDA IDA: Inferred from direct assay	9328354	GOA
enables thyroid hormone binding	IMP IMP: Inferred from mutant phenotype	16740909	GOA
enables transcription corepressor activity	IMP IMP: Inferred from mutant phenotype	11897713	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11897713	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12471561	GOA
involved in thyroid hormone transport	IMP IMP: Inferred from mutant phenotype	11897713	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12471561	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYM Protein Structure

OCD_Mu_crystall

0
100
200
314 a.a.

Protein Preferred Names

Protein Names

ketimine reductase mu-crystallin

NADP-regulated thyroid-hormone binding protein

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 40

DFNA40	Autosomal Dominant Nonsyndromic Deafness 40
Autosomal Dominant Deafness 40	Deafness, Autosomal Dominant, 40
Deafness, Autosomal Dominant, Type 40

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Recessive 91

DFNB91	Autosomal Recessive Nonsyndromic Deafness 91
Autosomal Recessive Deafness 91	Deafness, Autosomal Recessive, 91
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91	Deafness, Autosomal Recessive, Type 91

Deafness, Autosomal Recessive 89

DFNB89	Autosomal Recessive Nonsyndromic Deafness 89
Autosomal Recessive Deafness 89	Deafness, Autosomal Recessive, 89
Deafness, Autosomal Recessive, Type 89

Deafness, Autosomal Dominant 3a

DFNA3A	Autosomal Dominant Nonsyndromic Deafness 3a
Autosomal Dominant Deafness 3a	Deafness, Autosomal Dominant, 3a
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a
Deafness, Autosomal Dominant, Type 3a

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Deafness, Autosomal Recessive 1a

DFNB1A	Deafness, Digenic, Gjb2/Gjb3
Autosomal Recessive Nonsyndromic Deafness 1a	Deafness, Digenic, Gjb2/Gjb6
Deafness, Digenic Gjb2/Gjb6	Autosomal Recessive Deafness 1a
Deafness, Autosomal Recessive, 1a	Deafness Digenic Gjb2/Gjb3
Deafness Digenic Gjb2/Gjb6	Deafness Neurosensory Autosomal Recessive 1
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
Nsrd1	Deafness, Autosomal Recessive, Type 1a

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03218	CRYM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CRYM	VGNC	VGNC:71508
Mus musculus	CRYM	MGD	MGI:102675
Felis catus	CRYM	VGNC	VGNC:61209
Bos taurus	CRYM	VGNC	VGNC:27745
Canis familiaris	CRYM	VGNC	VGNC:39648
Rattus norvegicus	CRYM	RGD	RGD:620943

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