1. Gene
  2. CRYL1 - crystallin lambda 1 Gene

CRYL1 - crystallin lambda 1 Gene

Homo sapiens

Also known as GDH; HEL30; gul3DH; lambda-CRY

Gene ID: 51084 | Gene type: protein coding

About CRYL1

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:20,403,669-20,525,857 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues and 3 paralogues. Broad expression in kidney (RPKM 110.5), duodenum (RPKM 59.6) and 21 other tissues.

Summary

The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The Enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]

CRYL1 Products(2)

mRNA Protein Name
NM_001363647.2 NP_001350576.1 lambda-crystallin homolog isoform 2
NM_015974.3 NP_057058.2 lambda-crystallin homolog isoform 1

CRYL1 Protein Structure

3HCDH_N

3HCDH_N: 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain (9 - 188)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (192 - 280)

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  • 319 a.a.
Protein Preferred Names Protein Names

lambda-crystallin homolog

L-gulonate 3-dehydrogenase

Related Diseases

Diseases Alias
Pentosuria

Xylitol Dehydrogenase Deficiency

L-Xylulosuria

L-Xylulose Reductase Deficiency

Essential Pentosuria

PNTSU

Essential Benign Pentosuria

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

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

Orthologs Information

Species Symbol Source ID
Bos taurus CRYL1 VGNC VGNC:27744
Macaca mulatta CRYL1 VGNC VGNC:71433
Canis familiaris CRYL1 VGNC VGNC:39647
Mus musculus CRYL1 MGD MGI:1915881
Rattus norvegicus CRYL1 RGD RGD:631427
Felis catus CRYL1 VGNC VGNC:61208