1. Gene
  2. LCTL - lactase like Gene

LCTL - lactase like Gene

Homo sapiens

Also known as KLG; KLPH

Gene ID: 197021 | Gene type: protein coding

About LCTL

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:66,547,532-66,565,998 (from NCBI)

This gene has 8 transcripts (splice variants), 249 orthologues and 4 paralogues. Broad expression in testis (RPKM 4.1), lymph node (RPKM 0.7) and 20 other tissues.

Summary

This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

LCTL Products(4)

mRNA Protein Name
NM_001278562.3 NP_001265491.1 lactase-like protein isoform 2
NM_001394632.1 NP_001381561.1 lactase-like protein isoform 3
NM_001394633.1 NP_001381562.1 lactase-like protein isoform 4
NM_207338.4 NP_997221.2 lactase-like protein isoform 1 precursor

LCTL Protein Structure

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (35 - 502)

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  • 567 a.a.
Protein Preferred Names Protein Names

lactase-like protein

KL lactase phlorizin hydrolase

Related Diseases

Diseases Alias
Metacarpal 4-5 Fusion

Syndactyly Type 8

MF4

Fusion Of Metacarpals 4 And 5

Metacarpals 4 And 5 Fusion

Metacarpal 4 5 Fusion

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata

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
Macaca mulatta LCTL VGNC VGNC:74049
Rattus norvegicus LCTL RGD RGD:1305177
Bos taurus LCTL VGNC VGNC:30820
Mus musculus LCTL MGD MGI:2183549
Canis familiaris LCTL VGNC VGNC:58312
Felis catus LCTL VGNC VGNC:63206