SCD5 - stearoyl-CoA desaturase 5 Gene

Homo sapiens

Also known as SCD2; SCD4; ACOD4; FADS4; HSCD5; DFNA79

Gene ID: 79966 | Gene type: protein coding

About SCD5

Cytogenetic location: 4q21.22 Genomic coordinates (GRCh38): 4:82,629,539-82,798,796 (from NCBI)

This gene has 2 transcripts (splice variants), 143 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in brain (RPKM 129.6), adrenal (RPKM 62.7) and 5 other tissues.

Summary

Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]

SCD5 Products(2)

mRNA	Protein	Name
NM_001037582.3	NP_001032671.2	stearoyl-CoA desaturase 5 isoform a
NM_024906.3	NP_079182.2	stearoyl-CoA desaturase 5 isoform b

SCD5 Protein Structure

FA_desaturase

0
100
200
300
330 a.a.

Protein Preferred Names

Protein Names

stearoyl-CoA desaturase 5

acyl-CoA-desaturase 4

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 79

DFNA79

Deafness, Autosomal Dominant, 79

Chronic Maxillary Sinusitis

Chronic Antritis

Lipodystrophy, Congenital Generalized, Type 3

Congenital Generalized Lipodystrophy Type 3	CGL3
Bscl3	Berardinelli-Seip Congenital Lipodystrophy Type 3
Berardinelli-Seip Congenital Lipodystrophy, Type 3	Lipodystrophy, Berardinelli-Seip Congenital, Type 3
Type 3 Berardinelli-Seip Congenital Lipodystrophy	Congenital Generalized Lipodystrophy 3

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens	CBAVD
Cavd	Congenital Bilateral Aplasia Of Vas Deferens
Congenital Bilateral Absence Of The Vas Deferens	Congenital Bilateral Agenesis Of Vas Deferens
Absence Of Vas Deferens	Absent Vasa
Congenital Absence Of Vas Deferens	Congenital Aplasia Of Vas Deferens
Absent Vas Deferens	Vas Deferens, Congenital Bilateral Absence

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency