SPINK6 - serine peptidase inhibitor Kazal type 6 Gene

Homo sapiens

Also known as BUSI2; UNQ844

Gene ID: 404203 | Gene type: protein coding

About SPINK6

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:148,202,778-148,215,137 (from NCBI)

This gene has 3 transcripts (splice variants), 100 orthologues and 6 paralogues. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]

SPINK6 Products(2)

mRNA	Protein	Name
NM_001195290.2	NP_001182219.1	serine protease inhibitor Kazal-type 6 precursor
NM_205841.4	NP_995313.2	serine protease inhibitor Kazal-type 6 precursor

SPINK6 Protein Structure

Kazal_1

0
80 a.a.

Protein Preferred Names

Protein Names

serine protease inhibitor Kazal-type 6

acrosin inhibitor

Related Diseases

Diseases

Alias

Witkop Syndrome

Tooth And Nail Syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome
Tns	Ectodermal Dysplasia 3, Witkop Type
ECTD3	Ectodermal Dysplasia 3, Tooth/Nail Type
Tooth-And-Nail Syndrome	Dysplasia Of Nails With Hypodontia
Nail Dysplasia With Hypodontia	Witkop'S Syndrome
Hypodontia - Dysplasia Of Nails	Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia-Nail Dysgenesis Syndrome	Hypodontia-Nail Dysgenesis

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-RS13683	SPINK6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPINK6	MGD	MGI:3648654
Canis familiaris	SPINK6	VGNC	VGNC:53475
Macaca mulatta	SPINK6	VGNC	VGNC:110432
Rattus norvegicus	SPINK6	RGD	RGD:1303338

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