ARSF - arylsulfatase F Gene

Homo sapiens

Also known as ASF

Gene ID: 416 | Gene type: protein coding

About ARSF

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:3,040,234-3,112,727 (from NCBI)

This gene has 2 transcripts (splice variants), 307 orthologues and 16 paralogues. Biased expression in kidney (RPKM 3.3), skin (RPKM 2.1) and 5 other tissues.

Summary

This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]

ARSF Products(3)

mRNA	Protein	Name
NM_001201538.2	NP_001188467.1	arylsulfatase F precursor
NM_001201539.2	NP_001188468.1	arylsulfatase F precursor
NM_004042.5	NP_004033.2	arylsulfatase F precursor

ARSF Protein Structure

Sulfatase

Sulfatase_C

0
100
200
300
400
500
590 a.a.

Protein Preferred Names

Protein Names

arylsulfatase F

Related Diseases

Diseases

Alias

Martin-Probst Syndrome

Deafness-Intellectual Disability, Martin-Probst Type Syndrome	Martin-Probst Deafness-Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type	MRXSMP
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hearing Loss-Intellectual Disability Syndrome, Martin-Probst Type
X-Linked Deafness-Intellectual Disability Syndrome Syndrome	X-Linked Hearing Loss-Intellectual Disability Syndrome Syndrome

Gastric Dilatation

Stomach Dilatation

Hypertrophic Pyloric Stenosis

Congenital Hypertrophic Pyloric Stenosis	Pyloric Stenosis, Hypertrophic
Congenital Or Infantile Stricture Of Pylorus	Achalasia Of The Pylorus
Congenital Hypertrophy Of The Pylorus	Infantile Hypertrophy Of The Pylorus
Infantile Constriction Of The Pylorus	Congenital Stenosis Of The Pylorus
Congenital Constriction Of The Pylorus	Congenital Stricture Of The Pylorus
Infantile Hypertrophic Pyloric Stenosis	Infantile Stenosis Of The Pylorus
Infantile Stricture Of The Pylorus	Congenital Or Infantile Constriction Of Pylorus
Infantile Pyloric Obstruction	Infantile Pyloric Hypertrophy
Pylorus Achalasia	Pyloric Constriction
Infantile Pyloric Stricture	Infantile Pyloric Stenosis
Congenital Spasm Of Pylorus	Congenital Pylorospasm
Congenital Pyloric Stricture	Congenital Pyloric Spasm
Congenital Or Infantile Spasm Of Pylorus	Congenital Or Infantile Obstruction Of Pylorus
Congenital Pyloric Stenosis

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum