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CRYL1
crystallin lambda 1
CRYL1 is located on the long (q) arm of chromosome 13, at band 13q12.11. Arm ratio per GRCh38 - banding schematic.
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Overview
CRYL1 is located on chromosome 13 and encodes crystallin lambda 1, a protein whose name reflects structural similarity to crystallin proteins found in the eye lens. However, unlike its namesake family members, CRYL1 appears to function primarily in metabolic processes rather than maintaining lens transparency. The protein is expressed in various tissues throughout the body, suggesting roles beyond ocular biology. Current understanding of CRYL1 remains incomplete, with research continuing to characterise its specific molecular functions and potential implications for human health.
What the gene does
Crystallin lambda 1 belongs to a superfamily of proteins historically associated with lens biology, yet evidence suggests this particular member serves metabolic functions in diverse cell types. The protein demonstrates enzymatic activity related to the breakdown of specific metabolic intermediates, participating in biochemical pathways that manage cellular energy and waste products. Research indicates the enzyme may process certain aldehyde compounds generated during normal cellular metabolism, helping to maintain appropriate metabolic balance. The protein's expression pattern across multiple tissue types supports a housekeeping role in cellular biochemistry rather than specialised structural function. Ongoing investigations aim to define the complete substrate profile and pathway context for this enzyme.
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Chromosome location
CRYL1 is situated on the long arm of chromosome 13 at position 12.11, designated 13q12.11. This chromosomal region contains numerous genes involved in varied biological processes. Specific details regarding the number of exons comprising the CRYL1 gene and its complete genomic structure have not been fully documented in standard databases at present.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in CRYL1 have been identified through sequencing studies, though the clinical significance of most changes remains uncertain. The inheritance pattern for variants in this gene may vary depending on the specific alteration and its functional impact. Current variant databases contain limited pathogenic or likely pathogenic classifications for CRYL1, reflecting the early stage of clinical characterisation for this gene.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
No specific inherited conditions have been definitively linked to CRYL1 variants in clinical genetics literature to date. The gene's relatively recent identification and incomplete functional characterisation mean that genotype-phenotype correlations are still being investigated. As research progresses, clearer associations between CRYL1 variants and particular clinical presentations may emerge.
No disease links recorded for this gene in our reference set.
UK clinical status
Frequently asked questions
What does the CRYL1 gene do?
CRYL1 provides instructions for making a protein involved in cellular metabolism, specifically the processing of certain metabolic intermediates. Despite its name suggesting a lens protein, research indicates it functions primarily in metabolic pathways across various tissues.
Are CRYL1 variants clinically significant?
The clinical significance of most CRYL1 variants remains uncertain at present. No definitive disease associations have been established, though research continues to investigate potential genotype-phenotype relationships.
Is CRYL1 tested on the NHS?
CRYL1 is not currently included in NHS Genomic Medicine Service gene panels. The gene is not part of standard clinical genetic testing pathways in the UK at this time.