GLB1L

protein-coding

galactosidase beta 1 like, the group of Galactosidases beta

Gene summary

Predicted to enable beta-galactosidase activity. Predicted to be involved in galactose catabolic process. Predicted to be active in vacuole. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001286423.2

Inheritance

—

ClinVar variants

U:91B:7

Top phenotype

Primary ciliary dyskinesia

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr2:219,236,598-219,245,478

External References & Databases

Ensembl (ENSG00000163521)

Transcript & Mutation Effects

hg38 • Region Span ~8.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GLB1L variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 90

not providedTotal: 4

Primary ciliary dyskinesiaTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001286423.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			88 clinvar	4 clinvar	1 clinvar	93
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)						0
Total	0	0	91	6	1	98

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001286423.2	RefSeq	NP_001273352.1	16	MANE Select
ENST00000295759.12	Ensembl	ENSP00000295759.7	16	MANE Select
NM_001286427.1	RefSeq	NP_001273356.1	14	Standard
NM_024506.5	RefSeq	NP_078782.3	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of carbohydrates
Keratan sulfate degradation
Keratan sulfate/keratin metabolism
Metabolism of lipids
HS-GAG degradation

Biological Process

carbohydrate metabolic process

Molecular Function

beta-galactosidase activity

Cellular Component

extracellular region
vacuole

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295759
Coding exons: 16
Length: 8873
Individuals with no LoFs: 125661
Homozygous LoFs: 0
Heterozygous LoFs: 87
Defined: 125748
p: 0.000346

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.201	381	370	1.03	0.0000204	4262
Missense (PolyPhen)		177	171.4	1.0327		1947
Synonymous	0.0347	142	143	0.996	0.00000765	1309
Loss of Function	1.71	25	36.1	0.692	0.00000187	398

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00037	0.00037	rare
South Asian	0.00030	0.00029	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable glycosyl hydrolase. {ECO:0000305}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

LoFtool: 0.181
RVIS EVS: -0.4
RVIS percentile EVS: 26.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.439

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium